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Utviklingsavvik
Sist oppdatert: 26.09.2024
Utgiver: Oslo universitetssykehus
Akkreditert: ISO 15189:2022 Test 286
Mer informasjon
Versjon: 0.10
For tilgang til tidligere versjoner, kontakt redaktøren.
Kopier lenke til dette emnet
Kopiert
Foreslå endringer/gi kommentarer
Panelbekrivelse
Alvorlige utviklingsavvik og sykdommer med pediatrisk debut. Dette genpanelet erstatter 'Trioanalyse for psykisk utviklingshemming’.
Alvorlige utviklingsavvik og sykdommer med pediatrisk debut, inkludert:
- Moderat til alvorlig grad av isolert, generelt forsinket utvikling (< 5 år) eller utviklingshemming (≥ 5år)
- En kombinasjon av noen av følgende: dysmorfe trekk, organmisdannelser, vekstavvik, spesielle adferdstrekk, utviklingsavvik
- Epileptisk encefalopati eller alvorlig epilepsi
Ikke indikasjon
- Autisme i fravær av enten moderat til alvorlig generell utviklingsforsinkelse/ utviklingshemming eller mistanke om syndrom
- Epilepsi med normal utvikling/kognisjon
Om genpanelet
-
Analysen har endret navn fra TrioPU til Utviklingsavvik (UtAv).
-
Det utføres genomsekvensering av pasient, mor og far, med bioinformatisk filtrering for å analysere genpanel. Barnets genvarianter tolkes ved hjelp av foreldrenes genvarianter (trio-analyse).
- Hvis foreldreprøver ikke er av pasientens biologisk foreldre vil det avdekkes, og analysen vil ikke kunne gjennomføres.
- Det undersøkes for nyoppståtte genfeil, som er en hyppig årsak til utviklingsavvik. I tillegg undersøkes det for recessive (vikende) og X-bundne (kjønnsbundne) genetiske sykdommer.
- Ikke rekvirer denne analysen hvis mor eller far kan være affisert, eller du ikke kan få prøver fra begge. Ta kontakt med laboratoriet (22119860/23016636) for råd eller henvis familien til genetisk avdeling.
- Ikke rekvirer denne testen hvis det tidligere er utført dypsekvensering ved annet laboratorium, ta da kontakt med opprinnelig laboratorium for å drøfte videre utredning.
- Genpanelet er basert på «DDG2P, Developmental Disorders Genotype to Phenotype database» utarbeidet av DECIPHER (https://decipher.sanger.uk).
- Funnprosent er ca. 25-40% i velselekterte kohorter.
For informasjon om hvilke gener som inngår i tidligere, utgåtte versjoner av panelet, vises det til genliste på Genetikkportalen (www.genetikkportalen.no).
Gentliste
Utviklingsavvik versjon 03 (3304 gener)
| ABAT |
| ABCA1 |
| ABCA12 |
| ABCA2 |
| ABCA3 |
| ABCA4 |
| ABCB11 |
| ABCB4 |
| ABCB7 |
| ABCC2 |
| ABCC6 |
| ABCC8 |
| ABCC9 |
| ABCD1 |
| ABCD4 |
| ABCG5 |
| ABCG8 |
| ABHD12 |
| ABHD16A |
| ABHD5 |
| ABL1 |
| ACAD8 |
| ACAD9 |
| ACADM |
| ACADS |
| ACADSB |
| ACADVL |
| ACAN |
| ACAT1 |
| ACBD5 |
| ACE |
| ACER3 |
| ACO2 |
| ACOX1 |
| ACP5 |
| ACSF3 |
| ACSL4 |
| ACTA1 |
| ACTA2 |
| ACTB |
| ACTC1 |
| ACTG1 |
| ACTG2 |
| ACTL6A |
| ACTL6B |
| ACTN1 |
| ACTN2 |
| ACTN4 |
| ACVR1 |
| ACVR2B |
| ACVRL1 |
| ACY1 |
| ADA |
| ADA2 |
| ADAM22 |
| ADAMTS10 |
| ADAMTS13 |
| ADAMTS15 |
| ADAMTS17 |
| ADAMTS18 |
| ADAMTS19 |
| ADAMTS3 |
| ADAMTS9 |
| ADAMTSL2 |
| ADAR |
| ADARB1 |
| ADAT3 |
| ADCY5 |
| ADCY6 |
| ADD1 |
| ADD3 |
| ADGRG1 |
| ADGRG6 |
| ADGRV1 |
| ADK |
| ADNP |
| ADPRS |
| ADSL |
| ADSS1 |
| AFF2 |
| AFF3 |
| AFF4 |
| AFG2A |
| AFG2B |
| AFG3L2 |
| AGA |
| AGK |
| AGL |
| AGO1 |
| AGO2 |
| AGPAT2 |
| AGPS |
| AGRN |
| AGT |
| AGTPBP1 |
| AGTR1 |
| AGXT |
| AHCY |
| AHDC1 |
| AHI1 |
| AICDA |
| AIFM1 |
| AIMP1 |
| AIPL1 |
| AIRE |
| AK1 |
| AK2 |
| AKR1D1 |
| AKT1 |
| AKT2 |
| AKT3 |
| ALAD |
| ALAS2 |
| ALB |
| ALDH18A1 |
| ALDH1A2 |
| ALDH1A3 |
| ALDH3A2 |
| ALDH4A1 |
| ALDH5A1 |
| ALDH6A1 |
| ALDH7A1 |
| ALDOA |
| ALDOB |
| ALG1 |
| ALG11 |
| ALG12 |
| ALG13 |
| ALG14 |
| ALG2 |
| ALG3 |
| ALG6 |
| ALG8 |
| ALG9 |
| ALKBH8 |
| ALMS1 |
| ALOX12B |
| ALOXE3 |
| ALPK3 |
| ALPL |
| ALS2 |
| ALX1 |
| ALX3 |
| ALX4 |
| AMACR |
| AMELX |
| AMER1 |
| AMH |
| AMHR2 |
| AMMECR1 |
| AMN |
| AMOTL1 |
| AMPD1 |
| AMPD2 |
| AMT |
| ANAPC1 |
| ANGPTL6 |
| ANK1 |
| ANK2 |
| ANK3 |
| ANKH |
| ANKLE2 |
| ANKRD11 |
| ANKRD17 |
| ANKRD26 |
| ANKS6 |
| ANO10 |
| ANO3 |
| ANO5 |
| ANO6 |
| ANOS1 |
| ANTXR1 |
| ANTXR2 |
| AP1G1 |
| AP1S1 |
| AP1S2 |
| AP2M1 |
| AP2S1 |
| AP3B1 |
| AP3B2 |
| AP3D1 |
| AP4B1 |
| AP4E1 |
| AP4M1 |
| AP4S1 |
| AP5Z1 |
| APC |
| APC2 |
| APOA1 |
| APOA5 |
| APOB |
| APOC2 |
| APOE |
| APRT |
| APTX |
| AR |
| ARCN1 |
| ARF1 |
| ARF3 |
| ARFGEF1 |
| ARFGEF2 |
| ARFGEF3 |
| ARG1 |
| ARHGAP29 |
| ARHGAP31 |
| ARHGAP35 |
| ARHGDIA |
| ARHGEF9 |
| ARID1A |
| ARID1B |
| ARID2 |
| ARL13B |
| ARL3 |
| ARL6 |
| ARL6IP1 |
| ARMC9 |
| ARPC1B |
| ARPC4 |
| ARSA |
| ARSB |
| ARSL |
| ARV1 |
| ARX |
| ASAH1 |
| ASCC1 |
| ASCC3 |
| ASH1L |
| ASL |
| ASNS |
| ASPA |
| ASPH |
| ASPM |
| ASS1 |
| ASXL1 |
| ASXL2 |
| ASXL3 |
| ATAD1 |
| ATAD3A |
| ATCAY |
| ATG7 |
| ATIC |
| ATL1 |
| ATM |
| ATN1 |
| ATP13A2 |
| ATP1A1 |
| ATP1A2 |
| ATP1A3 |
| ATP2A1 |
| ATP2A2 |
| ATP2B1 |
| ATP5F1A |
| ATP5F1D |
| ATP5MC3 |
| ATP5PO |
| ATP6AP1 |
| ATP6AP2 |
| ATP6V0A1 |
| ATP6V0A2 |
| ATP6V0C |
| ATP6V1A |
| ATP6V1B1 |
| ATP6V1B2 |
| ATP6V1E1 |
| ATP7A |
| ATP7B |
| ATP8A2 |
| ATP8B1 |
| ATP9A |
| ATPAF2 |
| ATR |
| ATRX |
| ATXN1 |
| ATXN10 |
| ATXN2 |
| ATXN3 |
| ATXN7 |
| AUH |
| AUTS2 |
| AVPR2 |
| B2M |
| B3GALNT2 |
| B3GALT6 |
| B3GAT3 |
| B3GLCT |
| B4GALNT1 |
| B4GALT1 |
| B4GALT7 |
| B4GAT1 |
| B9D1 |
| B9D2 |
| BACH2 |
| BAG3 |
| BANF1 |
| BAP1 |
| BBS1 |
| BBS10 |
| BBS12 |
| BBS2 |
| BBS4 |
| BBS5 |
| BBS7 |
| BBS9 |
| BCAP31 |
| BCAS3 |
| BCAT2 |
| BCKDHA |
| BCKDHB |
| BCKDK |
| BCL11A |
| BCL11B |
| BCOR |
| BCS1L |
| BEAN1 |
| BFSP2 |
| BGN |
| BHLHA9 |
| BICD2 |
| BICRA |
| BIN1 |
| BLM |
| BLOC1S1 |
| BLOC1S3 |
| BLOC1S6 |
| BLTP1 |
| BMP1 |
| BMP2 |
| BMP4 |
| BMPER |
| BMPR1A |
| BMPR1B |
| BNC2 |
| BOLA3 |
| BPNT2 |
| BPTF |
| BRAF |
| BRAT1 |
| BRCA1 |
| BRCA2 |
| BRD4 |
| BRF1 |
| BRIP1 |
| BRPF1 |
| BRSK2 |
| BRWD3 |
| BSCL2 |
| BSND |
| BTD |
| BTK |
| BUB1 |
| BUB1B |
| BAAT |
| C12orf4 |
| C12orf57 |
| C19orf12 |
| C1QA |
| C1QB |
| C1QBP |
| C1QC |
| C1R |
| C1S |
| C2 |
| C2CD3 |
| C2orf69 |
| C3 |
| C5 |
| C6 |
| C7 |
| C8A |
| C8B |
| C8G |
| C9 |
| C9orf72 |
| CA2 |
| CA5A |
| CA8 |
| CACNA1A |
| CACNA1B |
| CACNA1C |
| CACNA1D |
| CACNA1E |
| CACNA1F |
| CACNA1G |
| CACNA1I |
| CACNA1S |
| CACNA2D1 |
| CACNA2D2 |
| CACNB4 |
| CAD |
| CAMK2A |
| CAMK2B |
| CAMK2G |
| CAMK4 |
| CAMSAP1 |
| CAMTA1 |
| CANT1 |
| CAPN1 |
| CAPN15 |
| CAPN3 |
| CAPRIN1 |
| CARD11 |
| CARD14 |
| CARD9 |
| CARMIL2 |
| CARS1 |
| CARS2 |
| CASK |
| CASP10 |
| CASQ1 |
| CASQ2 |
| CASR |
| CAT |
| CAV1 |
| CAV3 |
| CAVIN1 |
| CBL |
| CBLIF |
| CBS |
| CBY1 |
| CC2D1A |
| CC2D2A |
| CCBE1 |
| CCDC103 |
| CCDC115 |
| CCDC22 |
| CCDC32 |
| CCDC39 |
| CCDC40 |
| CCDC47 |
| CCDC65 |
| CCDC78 |
| CCDC8 |
| CCDC82 |
| CCDC88C |
| CCM2 |
| CCN6 |
| CCND2 |
| CCNO |
| CCNQ |
| CCT5 |
| CD151 |
| CD19 |
| CD247 |
| CD27 |
| CD3D |
| CD3E |
| CD3G |
| CD40 |
| CD40LG |
| CD55 |
| CD59 |
| CD70 |
| CD79A |
| CD79B |
| CD81 |
| CD8A |
| CDAN1 |
| CDC42 |
| CDC45 |
| CDC6 |
| CDCA7 |
| CDH1 |
| CDH11 |
| CDH15 |
| CDH2 |
| CDH23 |
| CDH3 |
| CDIN1 |
| CDK10 |
| CDK13 |
| CDK19 |
| CDK5RAP2 |
| CDK8 |
| CDKL5 |
| CDKN1C |
| CDON |
| CDSN |
| CDT1 |
| CDX1 |
| CDX2 |
| CEBPE |
| CELF2 |
| CELSR1 |
| CENPF |
| CENPJ |
| CEP104 |
| CEP120 |
| CEP135 |
| CEP152 |
| CEP164 |
| CEP290 |
| CEP41 |
| CEP55 |
| CEP57 |
| CEP63 |
| CEP83 |
| CEP85L |
| CERS1 |
| CERS3 |
| CERT1 |
| CFAP298 |
| CFAP300 |
| CFAP410 |
| CFAP418 |
| CFAP45 |
| CFAP52 |
| CFAP53 |
| CFC1 |
| CFD |
| CFH |
| CFHR5 |
| CFI |
| CFL2 |
| CFP |
| CFTR |
| CHAMP1 |
| CHAT |
| CHCHD10 |
| CHD1 |
| CHD2 |
| CHD3 |
| CHD4 |
| CHD5 |
| CHD7 |
| CHD8 |
| CHKA |
| CHKB |
| CHM |
| CHMP1A |
| CHMP2B |
| CHRDL1 |
| CHRM3 |
| CHRNA1 |
| CHRNA2 |
| CHRNA3 |
| CHRNA4 |
| CHRNB1 |
| CHRNB2 |
| CHRND |
| CHRNE |
| CHRNG |
| CHST14 |
| CHST3 |
| CHST6 |
| CHSY1 |
| CHUK |
| CIB2 |
| CIC |
| CIITA |
| CILK1 |
| CISD2 |
| CIT |
| CITED2 |
| CKAP2L |
| CLCN2 |
| CLCN3 |
| CLCN4 |
| CLCN5 |
| CLCN6 |
| CLCN7 |
| CLCNKB |
| CLDN1 |
| CLDN11 |
| CLDN14 |
| CLDN16 |
| CLDN19 |
| CLDN5 |
| CLMP |
| CLN3 |
| CLN5 |
| CLN6 |
| CLN8 |
| CLP1 |
| CLPB |
| CLPP |
| CLRN1 |
| CLTC |
| CNBP |
| CNGB3 |
| CNKSR2 |
| CNNM2 |
| CNOT1 |
| CNOT2 |
| CNOT3 |
| CNPY3 |
| CNTNAP1 |
| CNTNAP2 |
| COA6 |
| COA7 |
| COA8 |
| COASY |
| COCH |
| COG1 |
| COG4 |
| COG5 |
| COG6 |
| COG7 |
| COG8 |
| COL10A1 |
| COL11A1 |
| COL11A2 |
| COL12A1 |
| COL13A1 |
| COL17A1 |
| COL18A1 |
| COL1A1 |
| COL1A2 |
| COL25A1 |
| COL27A1 |
| COL2A1 |
| COL3A1 |
| COL4A1 |
| COL4A2 |
| COL4A3 |
| COL4A4 |
| COL4A5 |
| COL5A1 |
| COL5A2 |
| COL6A1 |
| COL6A2 |
| COL6A3 |
| COL7A1 |
| COL9A1 |
| COL9A2 |
| COL9A3 |
| COLEC10 |
| COLEC11 |
| COLGALT1 |
| COLQ |
| COMP |
| COPA |
| COPB2 |
| COQ2 |
| COQ4 |
| COQ6 |
| COQ7 |
| COQ8A |
| COQ8B |
| COQ9 |
| CORO1A |
| COX10 |
| COX11 |
| COX14 |
| COX15 |
| COX16 |
| COX20 |
| COX6A1 |
| COX6A2 |
| COX6B1 |
| COX7B |
| CP |
| CPAMD8 |
| CPE |
| CPLANE1 |
| CPLX1 |
| CPOX |
| CPS1 |
| CPSF3 |
| CPT1A |
| CPT1C |
| CPT2 |
| CR2 |
| CRADD |
| CRB1 |
| CRB2 |
| CREB3L1 |
| CREBBP |
| CRELD1 |
| CRIPT |
| CRLF1 |
| CRLS1 |
| CRPPA |
| CRTAP |
| CRX |
| CRYAB |
| CRYBA1 |
| CRYBA4 |
| CRYBB1 |
| CRYBB2 |
| CRYBB3 |
| CRYGC |
| CRYGD |
| CRYAA |
| CSDE1 |
| CSF1R |
| CSF2RA |
| CSF2RB |
| CSF3R |
| CSGALNACT1 |
| CSNK1G1 |
| CSNK2A1 |
| CSNK2B |
| CSPP1 |
| CSTA |
| CSTB |
| CTBP1 |
| CTC1 |
| CTCF |
| CTDP1 |
| CTH |
| CTLA4 |
| CTNNA2 |
| CTNNB1 |
| CTNND1 |
| CTNND2 |
| CTNS |
| CTPS1 |
| CTR9 |
| CTSA |
| CTSC |
| CTSD |
| CTSF |
| CTSK |
| CTU2 |
| CUBN |
| CUL3 |
| CUL4B |
| CUL7 |
| CUX1 |
| CUX2 |
| CWC27 |
| CWF19L1 |
| CXCR4 |
| CYB5A |
| CYB5R3 |
| CYBA |
| CYBB |
| CYC1 |
| CYCS |
| CYFIP2 |
| CYP11A1 |
| CYP11B1 |
| CYP17A1 |
| CYP19A1 |
| CYP1B1 |
| CYP26B1 |
| CYP27A1 |
| CYP27B1 |
| CYP2R1 |
| CYP2U1 |
| CYP4F22 |
| CYP7B1 |
| D2HGDH |
| DAB1 |
| DAG1 |
| DARS1 |
| DARS2 |
| DAW1 |
| DBH |
| DBT |
| DCAF17 |
| DCC |
| DCDC2 |
| DCHS1 |
| DCLRE1B |
| DCLRE1C |
| DCPS |
| DCTN1 |
| DCX |
| DCXR |
| DDB1 |
| DDB2 |
| DDC |
| DDHD1 |
| DDHD2 |
| DDOST |
| DDR2 |
| DDRGK1 |
| DDX11 |
| DDX23 |
| DDX3X |
| DDX59 |
| DDX6 |
| DEAF1 |
| DEGS1 |
| DENND5A |
| DEPDC5 |
| DES |
| DGKE |
| DGUOK |
| DHCR24 |
| DHCR7 |
| DHDDS |
| DHFR |
| DHH |
| DHODH |
| DHPS |
| DHTKD1 |
| DHX30 |
| DHX37 |
| DIAPH1 |
| DICER1 |
| DIS3L2 |
| DISP1 |
| DKC1 |
| DLAT |
| DLD |
| DLG3 |
| DLG4 |
| DLG5 |
| DLL1 |
| DLL3 |
| DLL4 |
| DLX3 |
| DLX5 |
| DMD |
| DMP1 |
| DMPK |
| DMXL2 |
| DNA2 |
| DNAH11 |
| DNAH5 |
| DNAH9 |
| DNAI1 |
| DNAI2 |
| DNAJB11 |
| DNAJB6 |
| DNAJC12 |
| DNAJC19 |
| DNAJC21 |
| DNAJC5 |
| DNAL1 |
| DNASE2 |
| DNM1 |
| DNM1L |
| DNM2 |
| DNMT1 |
| DNMT3A |
| DNMT3B |
| DNAAF1 |
| DNAAF11 |
| DNAAF2 |
| DNAAF3 |
| DNAAF4 |
| DNAAF5 |
| DNAAF6 |
| DOCK2 |
| DOCK3 |
| DOCK6 |
| DOCK7 |
| DOCK8 |
| DOHH |
| DOK7 |
| DOLK |
| DONSON |
| DPAGT1 |
| DPF2 |
| DPH1 |
| DPH5 |
| DPM1 |
| DPM2 |
| DPM3 |
| DPP6 |
| DPYD |
| DPYS |
| DPYSL5 |
| DRC1 |
| DROSHA |
| DSG1 |
| DSP |
| DSPP |
| DSTYK |
| DTNBP1 |
| DTYMK |
| DUOX2 |
| DUOXA2 |
| DVL1 |
| DVL2 |
| DVL3 |
| DYM |
| DYNC1H1 |
| DYNC1I1 |
| DYNC1I2 |
| DYNC2H1 |
| DYNC2I1 |
| DYNC2I2 |
| DYNC2LI1 |
| DYNLT2B |
| DYRK1A |
| DYSF |
| DZIP1L |
| EARS2 |
| EBF3 |
| EBP |
| ECEL1 |
| ECHS1 |
| ECM1 |
| EDA |
| EDAR |
| EDARADD |
| EDEM3 |
| EDN1 |
| EDN3 |
| EDNRA |
| EDNRB |
| EED |
| EEF1A2 |
| EEF2 |
| EFEMP2 |
| EFHC1 |
| EFNB1 |
| EFTUD2 |
| EGR2 |
| EHBP1L1 |
| EHMT1 |
| EIF2AK2 |
| EIF2AK3 |
| EIF2B1 |
| EIF2B2 |
| EIF2B3 |
| EIF2B4 |
| EIF2B5 |
| EIF2S3 |
| EIF3F |
| EIF4A3 |
| EIF5A |
| ELAC2 |
| ELANE |
| ELMO2 |
| ELN |
| ELOVL1 |
| ELOVL4 |
| ELOVL5 |
| ELP1 |
| ELP2 |
| EMC1 |
| EMC10 |
| EMD |
| EMG1 |
| EML1 |
| EMX2 |
| EN1 |
| ENG |
| ENO3 |
| ENPP1 |
| ENTPD1 |
| EOGT |
| EP300 |
| EPB41 |
| EPB42 |
| EPCAM |
| EPG5 |
| EPHB4 |
| EPM2A |
| EPRS1 |
| ERBB3 |
| ERBB4 |
| ERCC1 |
| ERCC2 |
| ERCC3 |
| ERCC4 |
| ERCC5 |
| ERCC6 |
| ERCC6L2 |
| ERCC8 |
| ERF |
| ERGIC1 |
| ERLIN1 |
| ERLIN2 |
| ESCO2 |
| ESRRB |
| ETFA |
| ETFB |
| ETFDH |
| ETHE1 |
| ETV6 |
| EVC |
| EVC2 |
| EXOC3L2 |
| EXOSC3 |
| EXOSC9 |
| EXPH5 |
| EXT1 |
| EXT2 |
| EXTL3 |
| EYA1 |
| EYA4 |
| EZH2 |
| F10 |
| F11 |
| F12 |
| F13A1 |
| F13B |
| F2 |
| F5 |
| F7 |
| F8 |
| F9 |
| FA2H |
| FADD |
| FAH |
| FAM111A |
| FAM111B |
| FAM149B1 |
| FAM161A |
| FAM20A |
| FAM20C |
| FAM50A |
| FANCA |
| FANCB |
| FANCC |
| FANCD2 |
| FANCE |
| FANCF |
| FANCG |
| FANCI |
| FANCL |
| FANCM |
| FAR1 |
| FARS2 |
| FARSA |
| FARSB |
| FAS |
| FASLG |
| FASTKD2 |
| FAT1 |
| FAT4 |
| FBLN5 |
| FBN1 |
| FBN2 |
| FBP1 |
| FBRSL1 |
| FBXL3 |
| FBXL4 |
| FBXO11 |
| FBXO28 |
| FBXO31 |
| FBXO7 |
| FBXW11 |
| FBXW7 |
| FCGR3A |
| FCN3 |
| FCSK |
| FDX2 |
| FDXR |
| FECH |
| FEM1C |
| FERMT3 |
| FEZF1 |
| FGA |
| FGB |
| FGD1 |
| FGD4 |
| FGF10 |
| FGF12 |
| FGF13 |
| FGF14 |
| FGF16 |
| FGF23 |
| FGF3 |
| FGF8 |
| FGF9 |
| FGFR1 |
| FGFR2 |
| FGFR3 |
| FGG |
| FH |
| FHL1 |
| FIG4 |
| FILIP1 |
| FITM2 |
| FKBP10 |
| FKBP14 |
| FKRP |
| FKTN |
| FLAD1 |
| FLCN |
| FLI1 |
| FLNA |
| FLNB |
| FLNC |
| FLT4 |
| FLVCR1 |
| FLVCR2 |
| FMN2 |
| FMO3 |
| FMR1 |
| FN1 |
| FOLR1 |
| FOXA2 |
| FOXC1 |
| FOXC2 |
| FOXE1 |
| FOXE3 |
| FOXF1 |
| FOXG1 |
| FOXI3 |
| FOXJ1 |
| FOXL2 |
| FOXN1 |
| FOXP1 |
| FOXP2 |
| FOXP3 |
| FOXP4 |
| FOXRED1 |
| FRA10AC1 |
| FRAS1 |
| FREM1 |
| FREM2 |
| FRMD4A |
| FRMD5 |
| FRMD7 |
| FRMPD4 |
| FRRS1L |
| FTCD |
| FTL |
| FTSJ1 |
| FUCA1 |
| FUT8 |
| FXN |
| FXR1 |
| FYB1 |
| FYCO1 |
| FZD2 |
| FZD5 |
| FZD6 |
| FZR1 |
| G6PC1 |
| G6PC3 |
| G6PD |
| GABBR1 |
| GABBR2 |
| GABRA1 |
| GABRA2 |
| GABRA5 |
| GABRB1 |
| GABRB2 |
| GABRB3 |
| GABRD |
| GABRG2 |
| GAD1 |
| GALC |
| GALE |
| GALK1 |
| GALM |
| GALNS |
| GALNT2 |
| GALNT3 |
| GALT |
| GAMT |
| GAN |
| GANAB |
| GARS1 |
| GAS2L2 |
| GAS8 |
| GATA1 |
| GATA2 |
| GATA3 |
| GATA4 |
| GATA6 |
| GATAD2B |
| GATB |
| GATM |
| GBA1 |
| GBA2 |
| GBE1 |
| GCDH |
| GCH1 |
| GCK |
| GCLC |
| GCSH |
| GDAP1 |
| GDF1 |
| GDF11 |
| GDF2 |
| GDF5 |
| GDF6 |
| GDI1 |
| GEMIN4 |
| GEMIN5 |
| GFAP |
| GFER |
| GFI1B |
| GFM1 |
| GFM2 |
| GFPT1 |
| GGCX |
| GGPS1 |
| GH1 |
| GHR |
| GHRHR |
| GHSR |
| GIGYF1 |
| GINS1 |
| GINS3 |
| GIPC3 |
| GJA1 |
| GJA3 |
| GJA8 |
| GJB1 |
| GJB2 |
| GJB3 |
| GJC2 |
| GK |
| GLA |
| GLB1 |
| GLDC |
| GLDN |
| GLE1 |
| GLI1 |
| GLI2 |
| GLI3 |
| GLIS2 |
| GLIS3 |
| GLMN |
| GLRA1 |
| GLRA2 |
| GLRB |
| GLRX5 |
| GLS |
| GLUD1 |
| GLUL |
| GLYCTK |
| GM2A |
| GMNN |
| GMPPA |
| GMPPB |
| GNA11 |
| GNA14 |
| GNAI1 |
| GNAI3 |
| GNAL |
| GNAO1 |
| GNAQ |
| GNAS |
| GNB1 |
| GNB2 |
| GNB5 |
| GNE |
| GNMT |
| GNPAT |
| GNPTAB |
| GNPTG |
| GNRHR |
| GNS |
| GOLGA2 |
| GORAB |
| GOSR2 |
| GOT2 |
| GP1BA |
| GP1BB |
| GP6 |
| GP9 |
| GPC3 |
| GPC4 |
| GPC6 |
| GPD1 |
| GPHN |
| GPI |
| GPR143 |
| GPR179 |
| GPSM2 |
| GPT2 |
| GPX4 |
| GPAA1 |
| GREB1L |
| GRHL2 |
| GRHL3 |
| GRHPR |
| GRIA1 |
| GRIA2 |
| GRIA3 |
| GRIA4 |
| GRID2 |
| GRIK2 |
| GRIN1 |
| GRIN2A |
| GRIN2B |
| GRIN2D |
| GRIP1 |
| GRM1 |
| GRM6 |
| GRM7 |
| GRN |
| GSC |
| GSDME |
| GSPT2 |
| GSS |
| GTF2E2 |
| GTF2H5 |
| GTPBP2 |
| GTPBP3 |
| GUCY1A1 |
| GUCY2C |
| GUSB |
| GYG1 |
| GYS1 |
| GYS2 |
| GZF1 |
| GAA |
| H1-4 |
| H19 |
| H3-3A |
| H3-3B |
| H4C11 |
| H4C3 |
| H4C5 |
| HACD1 |
| HACE1 |
| HADH |
| HADHA |
| HADHB |
| HAMP |
| HARS2 |
| HAX1 |
| HBA1 |
| HBA2 |
| HBB |
| HCCS |
| HCFC1 |
| HCN1 |
| HCN2 |
| HDAC4 |
| HDAC8 |
| HEATR3 |
| HECTD4 |
| HECW2 |
| HELLS |
| HEPACAM |
| HERC1 |
| HERC2 |
| HES7 |
| HESX1 |
| HEXA |
| HEXB |
| HFE |
| HGD |
| HGSNAT |
| HHAT |
| HIBCH |
| HID1 |
| HIKESHI |
| HINT1 |
| HIVEP2 |
| HJV |
| HK1 |
| HLCS |
| HMBS |
| HMGA2 |
| HMGB1 |
| HMGCL |
| HMGCS2 |
| HMX1 |
| HNF1B |
| HNF4A |
| HNMT |
| HNRNPA2B1 |
| HNRNPD |
| HNRNPDL |
| HNRNPH1 |
| HNRNPH2 |
| HNRNPK |
| HNRNPR |
| HNRNPU |
| HOGA1 |
| HOXA1 |
| HOXA11 |
| HOXA13 |
| HOXA2 |
| HOXB1 |
| HOXC13 |
| HOXD13 |
| HPCA |
| HPD |
| HPDL |
| HPGD |
| HPRT1 |
| HPS1 |
| HPS3 |
| HPS4 |
| HPS5 |
| HPS6 |
| HPSE2 |
| HR |
| HRAS |
| HS2ST1 |
| HSD17B10 |
| HSD17B3 |
| HSD17B4 |
| HSD3B2 |
| HSD3B7 |
| HSF4 |
| HSPB1 |
| HSPB8 |
| HSPD1 |
| HSPG2 |
| HTRA1 |
| HTRA2 |
| HTT |
| HUWE1 |
| HYAL1 |
| HYAL2 |
| HYCC1 |
| HYLS1 |
| HAAO |
| IARS1 |
| IARS2 |
| IBA57 |
| ICOS |
| IDH1 |
| IDH2 |
| IDH3A |
| IDS |
| IDUA |
| IER3IP1 |
| IFIH1 |
| IFITM5 |
| IFNGR1 |
| IFNGR2 |
| IFT122 |
| IFT140 |
| IFT172 |
| IFT27 |
| IFT43 |
| IFT52 |
| IFT74 |
| IFT80 |
| IFT81 |
| IGF1 |
| IGF1R |
| IGF2 |
| IGFALS |
| IGFBP7 |
| IGHMBP2 |
| IGLL1 |
| IGSF1 |
| IHH |
| IKBKB |
| IKZF1 |
| IL10RA |
| IL10RB |
| IL11RA |
| IL12B |
| IL12RB1 |
| IL17RA |
| IL17RC |
| IL1RAPL1 |
| IL1RN |
| IL21R |
| IL2RA |
| IL2RG |
| IL36RN |
| IL7R |
| ILDR1 |
| IMPDH2 |
| INF2 |
| INO80 |
| INPP5E |
| INPP5K |
| INPPL1 |
| INSR |
| INTS1 |
| INTS11 |
| INTU |
| INVS |
| IPO8 |
| IQCB1 |
| IQCE |
| IQSEC1 |
| IQSEC2 |
| IRAK4 |
| IREB2 |
| IRF2BPL |
| IRF6 |
| IRF8 |
| IRS4 |
| IRX5 |
| ISCA1 |
| ISCA2 |
| ISCU |
| ISG15 |
| ITCH |
| ITGA2B |
| ITGA3 |
| ITGA6 |
| ITGA7 |
| ITGA8 |
| ITGB2 |
| ITGB3 |
| ITGB4 |
| ITK |
| ITPA |
| ITPR1 |
| ITSN2 |
| IVD |
| IYD |
| JAG1 |
| JAG2 |
| JAGN1 |
| JAK3 |
| JAM3 |
| JARID2 |
| JPH2 |
| JPH3 |
| JUP |
| KANSL1 |
| KARS1 |
| KAT5 |
| KAT6A |
| KAT6B |
| KAT8 |
| KATNB1 |
| KATNIP |
| KBTBD13 |
| KCNA1 |
| KCNA2 |
| KCNB1 |
| KCNC1 |
| KCNC2 |
| KCNC3 |
| KCND2 |
| KCND3 |
| KCNE1 |
| KCNH1 |
| KCNH5 |
| KCNJ1 |
| KCNJ10 |
| KCNJ11 |
| KCNJ2 |
| KCNJ6 |
| KCNJ8 |
| KCNK3 |
| KCNK4 |
| KCNK9 |
| KCNMA1 |
| KCNN2 |
| KCNN3 |
| KCNQ1 |
| KCNQ2 |
| KCNQ3 |
| KCNQ4 |
| KCNQ5 |
| KCNT1 |
| KCNT2 |
| KCTD1 |
| KCTD17 |
| KCTD3 |
| KCTD7 |
| KDELR2 |
| KDM1A |
| KDM2B |
| KDM3B |
| KDM4B |
| KDM5A |
| KDM5B |
| KDM5C |
| KDM6A |
| KDM6B |
| KDSR |
| KIDINS220 |
| KIF11 |
| KIF14 |
| KIF1A |
| KIF1C |
| KIF21A |
| KIF21B |
| KIF22 |
| KIF23 |
| KIF24 |
| KIF2A |
| KIF4A |
| KIF5A |
| KIF5B |
| KIF5C |
| KIF7 |
| KIFBP |
| KIT |
| KIAA0586 |
| KIAA0753 |
| KIAA0825 |
| KLF1 |
| KLF7 |
| KLHL20 |
| KLHL40 |
| KLHL41 |
| KLHL7 |
| KLKB1 |
| KMT2A |
| KMT2B |
| KMT2C |
| KMT2D |
| KMT2E |
| KMT5B |
| KNG1 |
| KNL1 |
| KPNA3 |
| KPTN |
| KRAS |
| KRIT1 |
| KRT14 |
| KRT16 |
| KRT17 |
| KRT5 |
| KRT6A |
| KRT74 |
| KYNU |
| L1CAM |
| L2HGDH |
| LAGE3 |
| LAMA1 |
| LAMA2 |
| LAMA3 |
| LAMB1 |
| LAMB2 |
| LAMB3 |
| LAMC2 |
| LAMC3 |
| LAMP2 |
| LAMTOR2 |
| LARGE1 |
| LARP7 |
| LARS1 |
| LARS2 |
| LAT |
| LBR |
| LCAT |
| LCT |
| LDB3 |
| LDHA |
| LDLR |
| LDLRAP1 |
| LEMD2 |
| LEMD3 |
| LEPR |
| LETM1 |
| LFNG |
| LGI1 |
| LGI4 |
| LHCGR |
| LHFPL5 |
| LHX2 |
| LHX3 |
| LHX4 |
| LIAS |
| LIFR |
| LIG3 |
| LIG4 |
| LINGO1 |
| LINGO4 |
| LINS1 |
| LIPA |
| LIPE |
| LIPN |
| LIPT1 |
| LIPT2 |
| LITAF |
| LMAN1 |
| LMBR1 |
| LMBRD1 |
| LMBRD2 |
| LMNA |
| LMNB1 |
| LMNB2 |
| LMOD3 |
| LMX1B |
| LNPK |
| LONP1 |
| LOXHD1 |
| LPIN1 |
| LPIN2 |
| LPL |
| LRAT |
| LRBA |
| LRIG2 |
| LRIT3 |
| LRP2 |
| LRP4 |
| LRP5 |
| LRPPRC |
| LRRC56 |
| LRRK1 |
| LRRK2 |
| LRSAM1 |
| LRTOMT |
| LSS |
| LTBP1 |
| LTBP2 |
| LTBP3 |
| LTBP4 |
| LYRM4 |
| LYRM7 |
| LYSET |
| LYST |
| LZTFL1 |
| LZTR1 |
| MAB21L1 |
| MAB21L2 |
| MACF1 |
| MADD |
| MAF |
| MAFB |
| MAG |
| MAGEL2 |
| MAGI2 |
| MAGT1 |
| MALT1 |
| MAMLD1 |
| MAN1B1 |
| MAN2B1 |
| MAN2C1 |
| MANBA |
| MAOA |
| MAP1B |
| MAP2K1 |
| MAP2K2 |
| MAP3K1 |
| MAP3K20 |
| MAP3K7 |
| MAPK1 |
| MAPK8IP3 |
| MAPKAPK5 |
| MAPKBP1 |
| MAPRE2 |
| MAPT |
| MARS2 |
| MARVELD2 |
| MASP1 |
| MASP2 |
| MAST1 |
| MAT1A |
| MATN3 |
| MATR3 |
| MBD5 |
| MBOAT7 |
| MBTPS1 |
| MBTPS2 |
| MC2R |
| MCCC1 |
| MCCC2 |
| MCEE |
| MCFD2 |
| MCIDAS |
| MCM3AP |
| MCM4 |
| MCOLN1 |
| MCPH1 |
| MDFIC |
| MDH2 |
| MECOM |
| MECP2 |
| MECR |
| MED11 |
| MED12 |
| MED13 |
| MED13L |
| MED17 |
| MED23 |
| MED25 |
| MED27 |
| MEF2C |
| MEFV |
| MEGF10 |
| MEGF8 |
| MEIS2 |
| MEOX1 |
| MESD |
| MESP2 |
| METTL23 |
| METTL5 |
| MFF |
| MFN2 |
| MFRP |
| MFSD2A |
| MFSD8 |
| MGAT2 |
| MGME1 |
| MGP |
| MICOS13 |
| MICU1 |
| MID1 |
| MINPP1 |
| MIPEP |
| MIR17HG |
| MITF |
| MKKS |
| MKS1 |
| MLC1 |
| MLIP |
| MLYCD |
| MMAB |
| MMACHC |
| MMADHC |
| MMGT1 |
| MMP13 |
| MMP2 |
| MMP21 |
| MMUT |
| MMAA |
| MN1 |
| MNS1 |
| MNX1 |
| MOCS1 |
| MOCS2 |
| MOGS |
| MORC2 |
| MPC1 |
| MPDU1 |
| MPDZ |
| MPI |
| MPIG6B |
| MPL |
| MPLKIP |
| MPO |
| MPV17 |
| MPZ |
| MRAP |
| MRAS |
| MRE11 |
| MRPL3 |
| MRPL44 |
| MRPS2 |
| MRPS22 |
| MRPS34 |
| MS4A1 |
| MSH6 |
| MSL2 |
| MSL3 |
| MSMO1 |
| MSN |
| MSTO1 |
| MSX1 |
| MSX2 |
| MTCL1 |
| MTFMT |
| MTHFD1 |
| MTHFR |
| MTHFS |
| MTM1 |
| MTMR2 |
| MTO1 |
| MTOR |
| MTPAP |
| MTR |
| MTRFR |
| MTRR |
| MTSS2 |
| MTTP |
| MTX2 |
| MUC1 |
| MUSK |
| MVK |
| MYBPC1 |
| MYCN |
| MYD88 |
| MYF5 |
| MYH10 |
| MYH11 |
| MYH14 |
| MYH2 |
| MYH3 |
| MYH6 |
| MYH7 |
| MYH8 |
| MYH9 |
| MYL1 |
| MYL11 |
| MYL2 |
| MYL9 |
| MYLK |
| MYMK |
| MYO15A |
| MYO18B |
| MYO1E |
| MYO3A |
| MYO5A |
| MYO5B |
| MYO6 |
| MYO7A |
| MYO9A |
| MYOCD |
| MYOD1 |
| MYORG |
| MYOT |
| MYPN |
| MYRF |
| MYSM1 |
| MYT1 |
| MYT1L |
| NACC1 |
| NADK2 |
| NADSYN1 |
| NAE1 |
| NAGA |
| NAGLU |
| NAGS |
| NALCN |
| NANS |
| NAPB |
| NARS1 |
| NARS2 |
| NAXD |
| NAXE |
| NBAS |
| NBEA |
| NBEAL2 |
| NBN |
| NCAPD2 |
| NCAPD3 |
| NCAPG2 |
| NCDN |
| NCF2 |
| NCKAP1 |
| NDE1 |
| NDNF |
| NDP |
| NDRG1 |
| NDST1 |
| NDUFA1 |
| NDUFA10 |
| NDUFA11 |
| NDUFA12 |
| NDUFA13 |
| NDUFA2 |
| NDUFA4 |
| NDUFA6 |
| NDUFA8 |
| NDUFA9 |
| NDUFAF1 |
| NDUFAF2 |
| NDUFAF3 |
| NDUFAF4 |
| NDUFAF5 |
| NDUFAF6 |
| NDUFAF8 |
| NDUFB10 |
| NDUFB11 |
| NDUFB3 |
| NDUFB8 |
| NDUFC2 |
| NDUFS1 |
| NDUFS2 |
| NDUFS3 |
| NDUFS4 |
| NDUFS6 |
| NDUFS7 |
| NDUFS8 |
| NDUFV1 |
| NDUFV2 |
| NEB |
| NECTIN1 |
| NECTIN4 |
| NEDD4L |
| NEFH |
| NEFL |
| NEK1 |
| NEK8 |
| NEK9 |
| NEMF |
| NEU1 |
| NEUROD2 |
| NEXMIF |
| NF1 |
| NF2 |
| NFASC |
| NFE2L2 |
| NFIA |
| NFIB |
| NFIX |
| NFKB1 |
| NFKB2 |
| NFKBIA |
| NFS1 |
| NFU1 |
| NGLY1 |
| NHEJ1 |
| NHLRC1 |
| NHLRC2 |
| NHP2 |
| NHS |
| NID1 |
| NIPA1 |
| NIPAL4 |
| NIPBL |
| NKAP |
| NKX2-1 |
| NKX2-5 |
| NKX2-6 |
| NKX3-2 |
| NKX6-2 |
| NLGN3 |
| NLRC4 |
| NLRP12 |
| NLRP3 |
| NME8 |
| NMNAT1 |
| NNT |
| NOD2 |
| NODAL |
| NOG |
| NONO |
| NOP10 |
| NOP56 |
| NOTCH1 |
| NOTCH2 |
| NOTCH3 |
| NOVA2 |
| NPC1 |
| NPC2 |
| NPHP1 |
| NPHP3 |
| NPHP4 |
| NPHS1 |
| NPHS2 |
| NPM1 |
| NPNT |
| NPR2 |
| NPR3 |
| NPRL2 |
| NPRL3 |
| NPTX1 |
| NR0B1 |
| NR1H4 |
| NR2F1 |
| NR2F2 |
| NR3C1 |
| NR4A2 |
| NR5A1 |
| NRAS |
| NRCAM |
| NRROS |
| NRXN1 |
| NRXN2 |
| NSD1 |
| NSD2 |
| NSDHL |
| NSMCE3 |
| NSRP1 |
| NSUN2 |
| NSUN3 |
| NT5C2 |
| NT5C3A |
| NTNG2 |
| NTRK1 |
| NTRK2 |
| NUBPL |
| NUDT2 |
| NUDT6 |
| NUP107 |
| NUP133 |
| NUP188 |
| NUP214 |
| NUP54 |
| NUP62 |
| NUP93 |
| NUS1 |
| NXN |
| NYX |
| NAA10 |
| NAA15 |
| OAT |
| OBSCN |
| OBSL1 |
| OCA2 |
| OCLN |
| OCRL |
| ODAD1 |
| ODAD2 |
| ODAD3 |
| ODAD4 |
| ODAPH |
| ODC1 |
| OFD1 |
| OGDH |
| OGDHL |
| OGT |
| ONECUT1 |
| OPA1 |
| OPA3 |
| OPHN1 |
| ORAI1 |
| ORC1 |
| ORC4 |
| ORC6 |
| OSGEP |
| OSMR |
| OSTM1 |
| OTC |
| OTOA |
| OTOF |
| OTOGL |
| OTUD5 |
| OTUD6B |
| OTUD7A |
| OTULIN |
| OTX2 |
| OXCT1 |
| OXR1 |
| P2RY12 |
| P3H1 |
| P4HB |
| P4HTM |
| PACS1 |
| PACS2 |
| PAFAH1B1 |
| PAH |
| PAK1 |
| PAK3 |
| PALB2 |
| PALS1 |
| PAN2 |
| PANK2 |
| PAPPA2 |
| PAPSS2 |
| PARK7 |
| PARN |
| PARS2 |
| PAX1 |
| PAX2 |
| PAX3 |
| PAX6 |
| PAX7 |
| PAX8 |
| PAX9 |
| PBX1 |
| PC |
| PCARE |
| PCBD1 |
| PCCA |
| PCCB |
| PCDH12 |
| PCDH15 |
| PCDH19 |
| PCDHGC4 |
| PCGF2 |
| PCK1 |
| PCNT |
| PCSK9 |
| PCYT1A |
| PCYT2 |
| PDCD10 |
| PDE10A |
| PDE2A |
| PDE3A |
| PDE4D |
| PDE6G |
| PDE6H |
| PDGFB |
| PDGFRB |
| PDHA1 |
| PDHB |
| PDHX |
| PDK3 |
| PDP1 |
| PDSS1 |
| PDSS2 |
| PDYN |
| PDZD8 |
| PEPD |
| PET100 |
| PEX1 |
| PEX10 |
| PEX11B |
| PEX12 |
| PEX13 |
| PEX14 |
| PEX16 |
| PEX19 |
| PEX2 |
| PEX26 |
| PEX3 |
| PEX5 |
| PEX6 |
| PEX7 |
| PFKM |
| PGAM2 |
| PGAP1 |
| PGAP2 |
| PGAP3 |
| PGK1 |
| PGM1 |
| PGM2L1 |
| PGM3 |
| PHACTR1 |
| PHEX |
| PHF21A |
| PHF6 |
| PHF8 |
| PHGDH |
| PHIP |
| PHKA1 |
| PHKA2 |
| PHKB |
| PHKG2 |
| PHOX2B |
| PHYH |
| PI4KA |
| PIBF1 |
| PIDD1 |
| PIEZO1 |
| PIEZO2 |
| PIGA |
| PIGB |
| PIGC |
| PIGG |
| PIGH |
| PIGK |
| PIGL |
| PIGN |
| PIGO |
| PIGP |
| PIGQ |
| PIGS |
| PIGT |
| PIGU |
| PIGV |
| PIGW |
| PIGY |
| PIK3C2A |
| PIK3CA |
| PIK3CD |
| PIK3R1 |
| PIK3R2 |
| PINK1 |
| PISD |
| PITRM1 |
| PITX1 |
| PITX2 |
| PITX3 |
| PJVK |
| PKD1 |
| PKD1L1 |
| PKD2 |
| PKDCC |
| PKHD1 |
| PKLR |
| PLA2G4A |
| PLA2G6 |
| PLAG1 |
| PLAU |
| PLCB1 |
| PLCB4 |
| PLCE1 |
| PLCG2 |
| PLD1 |
| PLEC |
| PLG |
| PLIN1 |
| PLK1 |
| PLK4 |
| PLOD1 |
| PLOD2 |
| PLP1 |
| PLPBP |
| PLS3 |
| PLVAP |
| PLXNA1 |
| PLXND1 |
| PLAA |
| PMM2 |
| PMP22 |
| PMPCA |
| PMPCB |
| PMS2 |
| PNKD |
| PNKP |
| PNP |
| PNPLA1 |
| PNPLA2 |
| PNPLA6 |
| PNPLA8 |
| PNPO |
| PNPT1 |
| POC1A |
| POC1B |
| POGZ |
| POLA1 |
| POLD1 |
| POLE |
| POLG |
| POLG2 |
| POLH |
| POLR1A |
| POLR1B |
| POLR1C |
| POLR1D |
| POLR2A |
| POLR3A |
| POLR3B |
| POLRMT |
| POMGNT1 |
| POMGNT2 |
| POMK |
| POMT1 |
| POMT2 |
| POP1 |
| POR |
| PORCN |
| POU1F1 |
| POU3F2 |
| POU3F3 |
| POU3F4 |
| POU4F1 |
| POU4F3 |
| PPA2 |
| PPARG |
| PPFIBP1 |
| PPIB |
| PPIL1 |
| PPM1D |
| PPOX |
| PPP1CB |
| PPP1R12A |
| PPP1R13L |
| PPP1R15B |
| PPP1R21 |
| PPP2CA |
| PPP2R1A |
| PPP2R2B |
| PPP2R3C |
| PPP2R5D |
| PPP3CA |
| PPT1 |
| PQBP1 |
| PRDM12 |
| PRDM13 |
| PRDX3 |
| PREPL |
| PRF1 |
| PRG4 |
| PRICKLE1 |
| PRICKLE2 |
| PRIM1 |
| PRKACA |
| PRKACB |
| PRKAG2 |
| PRKAR1A |
| PRKAR1B |
| PRKCD |
| PRKCG |
| PRKD1 |
| PRKDC |
| PRKG2 |
| PRKN |
| PRKRA |
| PRMT7 |
| PRNP |
| PROC |
| PRODH |
| PROKR2 |
| PROP1 |
| PRORP |
| PROS1 |
| PRPF8 |
| PRPS1 |
| PRR12 |
| PRRT2 |
| PRRX1 |
| PRSS12 |
| PRSS56 |
| PRUNE1 |
| PRX |
| PSAP |
| PSAT1 |
| PSEN1 |
| PSMB8 |
| PSMC5 |
| PSMD12 |
| PSPH |
| PSTPIP1 |
| PTCH1 |
| PTCHD1 |
| PTDSS1 |
| PTEN |
| PTF1A |
| PTH |
| PTH1R |
| PTHLH |
| PTPN11 |
| PTPN14 |
| PTPN23 |
| PTPN4 |
| PTPRC |
| PTRH2 |
| PTRHD1 |
| PTS |
| PUF60 |
| PUM1 |
| PURA |
| PUS1 |
| PUS3 |
| PUS7 |
| PXDN |
| PYCR1 |
| PYCR2 |
| PYGL |
| PYGM |
| PYROXD1 |
| QARS1 |
| QDPR |
| QRICH1 |
| QRSL1 |
| RAB11A |
| RAB11B |
| RAB14 |
| RAB18 |
| RAB23 |
| RAB27A |
| RAB33B |
| RAB39B |
| RAB3GAP1 |
| RAB3GAP2 |
| RAB7A |
| RAC1 |
| RAC2 |
| RAC3 |
| RAD21 |
| RAD50 |
| RAD51 |
| RAD51C |
| RAF1 |
| RAG1 |
| RAG2 |
| RAI1 |
| RALA |
| RALGAPA1 |
| RAPSN |
| RARB |
| RARS1 |
| RARS2 |
| RASA1 |
| RASGRP1 |
| RASGRP2 |
| RAX |
| RBBP8 |
| RBCK1 |
| RBM10 |
| RBM8A |
| RBP4 |
| RBPJ |
| RBSN |
| RECQL4 |
| REEP1 |
| REEP2 |
| RELN |
| REN |
| RERE |
| REST |
| RET |
| RETREG1 |
| RFT1 |
| RFX3 |
| RFX4 |
| RFX5 |
| RFX6 |
| RFX7 |
| RFXANK |
| RFXAP |
| RHAG |
| RHEB |
| RHOBTB2 |
| RIMS2 |
| RIN2 |
| RINT1 |
| RIPK1 |
| RIPK4 |
| RIT1 |
| RLIM |
| RMND1 |
| RMRP |
| RNASEH1 |
| RNASEH2A |
| RNASEH2B |
| RNASEH2C |
| RNASET2 |
| RNF113A |
| RNF125 |
| RNF13 |
| RNF168 |
| RNF170 |
| RNF213 |
| RNF216 |
| RNF220 |
| RNPC3 |
| RNU4ATAC |
| RNU7-1 |
| ROBO1 |
| ROBO2 |
| ROBO3 |
| ROBO4 |
| ROGDI |
| ROR2 |
| RORA |
| RORB |
| RORC |
| RPE65 |
| RPGR |
| RPGRIP1 |
| RPGRIP1L |
| RPIA |
| RPL10 |
| RPL11 |
| RPL13 |
| RPL15 |
| RPL26 |
| RPL35A |
| RPL5 |
| RPS10 |
| RPS19 |
| RPS23 |
| RPS24 |
| RPS26 |
| RPS6KA3 |
| RPS7 |
| RPSA |
| RRAS |
| RRAS2 |
| RRM2B |
| RS1 |
| RSPH1 |
| RSPH3 |
| RSPH4A |
| RSPH9 |
| RSPO1 |
| RSPO2 |
| RSPO4 |
| RSPRY1 |
| RSRC1 |
| RTEL1 |
| RTN2 |
| RTN4IP1 |
| RTTN |
| RUNX1 |
| RUNX2 |
| RXYLT1 |
| RYR1 |
| RYR2 |
| RYR3 |
| SACS |
| SALL1 |
| SALL4 |
| SAMD12 |
| SAMD9 |
| SAMD9L |
| SAMHD1 |
| SAR1B |
| SARS1 |
| SARS2 |
| SATB1 |
| SATB2 |
| SBDS |
| SBF1 |
| SBF2 |
| SC5D |
| SCAF4 |
| SCAMP5 |
| SCAPER |
| SCARB2 |
| SCARF2 |
| SCLT1 |
| SCN11A |
| SCN1A |
| SCN1B |
| SCN2A |
| SCN3A |
| SCN4A |
| SCN5A |
| SCN8A |
| SCN9A |
| SCNN1A |
| SCNN1B |
| SCNN1G |
| SCO1 |
| SCO2 |
| SCP2 |
| SCUBE3 |
| SCYL1 |
| SDCCAG8 |
| SDHA |
| SDHAF1 |
| SDHB |
| SDHD |
| SDR9C7 |
| SEC23B |
| SEC24D |
| SECISBP2 |
| SELENOI |
| SELENON |
| SEMA3A |
| SEMA6B |
| SEPSECS |
| SEPTIN9 |
| SERAC1 |
| SERPINE1 |
| SERPINF1 |
| SERPINF2 |
| SERPING1 |
| SERPINH1 |
| SERPINI1 |
| SET |
| SETBP1 |
| SETD1A |
| SETD1B |
| SETD2 |
| SETD5 |
| SETX |
| SF3B2 |
| SF3B4 |
| SFRP4 |
| SFTPB |
| SFXN4 |
| SGCA |
| SGCB |
| SGCD |
| SGCE |
| SGCG |
| SGMS2 |
| SGPL1 |
| SGSH |
| SH2D1A |
| SH3BP2 |
| SH3PXD2B |
| SH3TC2 |
| SHANK1 |
| SHANK2 |
| SHANK3 |
| SHH |
| SHMT2 |
| SHOC2 |
| SHOX |
| SHROOM3 |
| SI |
| SIAH1 |
| SIK1 |
| SIK3 |
| SIL1 |
| SIM1 |
| SIN3A |
| SIN3B |
| SIX1 |
| SIX2 |
| SIX3 |
| SIX5 |
| SIX6 |
| SKI |
| SKIC2 |
| SKIC3 |
| SLC10A7 |
| SLC11A2 |
| SLC12A1 |
| SLC12A2 |
| SLC12A3 |
| SLC12A5 |
| SLC12A6 |
| SLC13A5 |
| SLC16A1 |
| SLC16A2 |
| SLC17A5 |
| SLC18A2 |
| SLC18A3 |
| SLC19A2 |
| SLC19A3 |
| SLC1A1 |
| SLC1A2 |
| SLC1A3 |
| SLC1A4 |
| SLC20A1 |
| SLC20A2 |
| SLC22A5 |
| SLC24A4 |
| SLC25A1 |
| SLC25A12 |
| SLC25A13 |
| SLC25A15 |
| SLC25A19 |
| SLC25A20 |
| SLC25A22 |
| SLC25A24 |
| SLC25A26 |
| SLC25A3 |
| SLC25A32 |
| SLC25A38 |
| SLC25A4 |
| SLC25A42 |
| SLC25A46 |
| SLC26A2 |
| SLC26A3 |
| SLC26A4 |
| SLC26A7 |
| SLC27A4 |
| SLC29A3 |
| SLC2A1 |
| SLC2A10 |
| SLC2A2 |
| SLC30A10 |
| SLC31A1 |
| SLC32A1 |
| SLC33A1 |
| SLC34A1 |
| SLC34A2 |
| SLC34A3 |
| SLC35A1 |
| SLC35A2 |
| SLC35C1 |
| SLC35D1 |
| SLC37A4 |
| SLC38A3 |
| SLC39A13 |
| SLC39A14 |
| SLC39A4 |
| SLC39A8 |
| SLC3A1 |
| SLC40A1 |
| SLC44A1 |
| SLC45A1 |
| SLC45A2 |
| SLC46A1 |
| SLC4A1 |
| SLC4A11 |
| SLC4A4 |
| SLC52A2 |
| SLC52A3 |
| SLC5A1 |
| SLC5A2 |
| SLC5A5 |
| SLC5A6 |
| SLC5A7 |
| SLC6A1 |
| SLC6A17 |
| SLC6A19 |
| SLC6A20 |
| SLC6A3 |
| SLC6A5 |
| SLC6A8 |
| SLC6A9 |
| SLC7A7 |
| SLC7A9 |
| SLC9A1 |
| SLC9A6 |
| SLCO2A1 |
| SLF2 |
| SLFN14 |
| SLX4 |
| SMAD2 |
| SMAD3 |
| SMAD4 |
| SMAD6 |
| SMARCA2 |
| SMARCA4 |
| SMARCA5 |
| SMARCAL1 |
| SMARCB1 |
| SMARCC1 |
| SMARCC2 |
| SMARCD1 |
| SMARCE1 |
| SMC1A |
| SMC3 |
| SMC5 |
| SMCHD1 |
| SMG8 |
| SMG9 |
| SMO |
| SMOC1 |
| SMOC2 |
| SMPD1 |
| SMPD4 |
| SMPX |
| SMS |
| SNAP25 |
| SNAP29 |
| SNCA |
| SNIP1 |
| SNORD118 |
| SNRPB |
| SNRPE |
| SNX10 |
| SNX14 |
| SNX27 |
| SON |
| SOS1 |
| SOS2 |
| SOST |
| SOX10 |
| SOX11 |
| SOX17 |
| SOX18 |
| SOX2 |
| SOX3 |
| SOX4 |
| SOX5 |
| SOX6 |
| SOX9 |
| SP110 |
| SP7 |
| SPAG1 |
| SPARC |
| SPART |
| SPAST |
| SPECC1L |
| SPEG |
| SPEN |
| SPG11 |
| SPG21 |
| SPG7 |
| SPINK5 |
| SPOP |
| SPPL2A |
| SPR |
| SPRED1 |
| SPRED2 |
| SPTA1 |
| SPTAN1 |
| SPTB |
| SPTBN1 |
| SPTBN2 |
| SPTBN4 |
| SPTLC1 |
| SPTLC2 |
| SQSTM1 |
| SRC |
| SRCAP |
| SRD5A2 |
| SRD5A3 |
| SRP54 |
| SRRM2 |
| SRY |
| SSBP1 |
| SSR4 |
| ST14 |
| ST3GAL3 |
| ST3GAL5 |
| STAC3 |
| STAG1 |
| STAG2 |
| STAMBP |
| STAR |
| STAT1 |
| STAT2 |
| STAT3 |
| STAT5B |
| STEEP1 |
| STIL |
| STIM1 |
| STING1 |
| STK11 |
| STK4 |
| STN1 |
| STRA6 |
| STRADA |
| STS |
| STT3A |
| STUB1 |
| STX11 |
| STX1B |
| STXBP1 |
| STXBP2 |
| SUCLA2 |
| SUCLG1 |
| SUFU |
| SULT2B1 |
| SUMF1 |
| SUOX |
| SUPT16H |
| SURF1 |
| SUZ12 |
| SVBP |
| SYN1 |
| SYNCRIP |
| SYNE1 |
| SYNE2 |
| SYNGAP1 |
| SYNJ1 |
| SYP |
| SYT1 |
| SYT2 |
| SZT2 |
| TAB2 |
| TAC3 |
| TACO1 |
| TACR3 |
| TAF1 |
| TAF13 |
| TAF2 |
| TAF4 |
| TAF6 |
| TAF8 |
| TAFAZZIN |
| TALDO1 |
| TANC2 |
| TANGO2 |
| TAOK1 |
| TAP1 |
| TAP2 |
| TAPBP |
| TAPT1 |
| TARDBP |
| TARS1 |
| TARS2 |
| TASP1 |
| TAT |
| TBC1D1 |
| TBC1D20 |
| TBC1D23 |
| TBC1D24 |
| TBC1D2B |
| TBC1D32 |
| TBCD |
| TBCE |
| TBCK |
| TBK1 |
| TBL1X |
| TBL1XR1 |
| TBP |
| TBR1 |
| TBX1 |
| TBX15 |
| TBX18 |
| TBX19 |
| TBX20 |
| TBX22 |
| TBX3 |
| TBX4 |
| TBX5 |
| TBX6 |
| TBXA2R |
| TBXAS1 |
| TCAP |
| TCEAL1 |
| TCF12 |
| TCF20 |
| TCF3 |
| TCF4 |
| TCF7L2 |
| TCIRG1 |
| TCN2 |
| TCOF1 |
| TCTN1 |
| TCTN2 |
| TCTN3 |
| TDP2 |
| TECPR2 |
| TECTA |
| TEK |
| TELO2 |
| TENM3 |
| TENT5A |
| TERC |
| TERT |
| TET3 |
| TF |
| TFAM |
| TFAP2A |
| TFAP2B |
| TFE3 |
| TFG |
| TFR2 |
| TG |
| TGDS |
| TGFB1 |
| TGFB2 |
| TGFB3 |
| TGFBR1 |
| TGFBR2 |
| TGIF1 |
| TGM1 |
| TGM5 |
| TGM6 |
| TH |
| THAP1 |
| THBD |
| THOC2 |
| THOC6 |
| THPO |
| THRA |
| THRB |
| THUMPD1 |
| TIA1 |
| TIAM1 |
| TICAM1 |
| TIMM50 |
| TIMM8A |
| TIMMDC1 |
| TINF2 |
| TJP2 |
| TK2 |
| TKT |
| TLK2 |
| TLL1 |
| TLR3 |
| TMC1 |
| TMC6 |
| TMC8 |
| TMCO1 |
| TMEM106B |
| TMEM107 |
| TMEM126B |
| TMEM138 |
| TMEM147 |
| TMEM163 |
| TMEM165 |
| TMEM199 |
| TMEM216 |
| TMEM218 |
| TMEM222 |
| TMEM231 |
| TMEM237 |
| TMEM240 |
| TMEM260 |
| TMEM38B |
| TMEM43 |
| TMEM63A |
| TMEM63C |
| TMEM67 |
| TMEM70 |
| TMEM94 |
| TMEM98 |
| TMIE |
| TMPRSS3 |
| TMPRSS6 |
| TMTC3 |
| TMX2 |
| TNFAIP3 |
| TNFRSF11A |
| TNFRSF11B |
| TNFRSF13B |
| TNFRSF13C |
| TNFRSF1A |
| TNFSF11 |
| TNNC2 |
| TNNI2 |
| TNNT1 |
| TNNT3 |
| TNPO2 |
| TNPO3 |
| TNRC6B |
| TNS2 |
| TOE1 |
| TOGARAM1 |
| TONSL |
| TOP2B |
| TOP3A |
| TOR1A |
| TOR1AIP1 |
| TP53 |
| TP53RK |
| TP63 |
| TP73 |
| TPI1 |
| TPK1 |
| TPM2 |
| TPM3 |
| TPO |
| TPP1 |
| TPP2 |
| TPRKB |
| TRA2B |
| TRAF3IP1 |
| TRAF7 |
| TRAIP |
| TRAK1 |
| TRAP1 |
| TRAPPC10 |
| TRAPPC11 |
| TRAPPC12 |
| TRAPPC2 |
| TRAPPC4 |
| TRAPPC6B |
| TRAPPC9 |
| TREM2 |
| TREX1 |
| TRHR |
| TRIM32 |
| TRIM37 |
| TRIM71 |
| TRIM8 |
| TRIO |
| TRIOBP |
| TRIP11 |
| TRIP12 |
| TRIP13 |
| TRIP4 |
| TRIT1 |
| TRMT1 |
| TRMT10A |
| TRMT10C |
| TRMT5 |
| TRMU |
| TRNT1 |
| TRPC6 |
| TRPM1 |
| TRPM3 |
| TRPM4 |
| TRPM6 |
| TRPS1 |
| TRPV3 |
| TRPV4 |
| TRPV6 |
| TRRAP |
| TSC1 |
| TSC2 |
| TSEN15 |
| TSEN2 |
| TSEN34 |
| TSEN54 |
| TSFM |
| TSHB |
| TSHR |
| TSPAN7 |
| TSPYL1 |
| TTBK2 |
| TTC19 |
| TTC21B |
| TTC5 |
| TTC7A |
| TTC8 |
| TTI2 |
| TTN |
| TTPA |
| TTR |
| TUBA1A |
| TUBA8 |
| TUBB |
| TUBB1 |
| TUBB2A |
| TUBB2B |
| TUBB3 |
| TUBB4A |
| TUBG1 |
| TUBGCP2 |
| TUBGCP4 |
| TUBGCP6 |
| TUFM |
| TUSC3 |
| TWIST1 |
| TWIST2 |
| TWNK |
| TXNDC15 |
| TXNL4A |
| TYK2 |
| TYMP |
| TYR |
| TYROBP |
| TYRP1 |
| U2AF2 |
| UBA1 |
| UBA2 |
| UBA5 |
| UBAP1 |
| UBAP2L |
| UBE2A |
| UBE2T |
| UBE3A |
| UBE3B |
| UBE3C |
| UBE4A |
| UBR1 |
| UBR7 |
| UBTF |
| UCHL1 |
| UFC1 |
| UFM1 |
| UFSP2 |
| UGDH |
| UGP2 |
| UGT1A1 |
| UMOD |
| UMPS |
| UNC13D |
| UNC45A |
| UNC45B |
| UNC80 |
| UNC93B1 |
| UNG |
| UPB1 |
| UPF1 |
| UPF3B |
| UQCC2 |
| UQCRB |
| UQCRC2 |
| UQCRFS1 |
| UQCRQ |
| UROC1 |
| UROD |
| UROS |
| USB1 |
| USH1C |
| USH1G |
| USH2A |
| USP18 |
| USP27X |
| USP7 |
| USP9X |
| UVSSA |
| VAC14 |
| VAMP1 |
| VAMP2 |
| VARS1 |
| VARS2 |
| VCAN |
| VCP |
| VDR |
| VEGFC |
| VHL |
| VIPAS39 |
| VKORC1 |
| VLDLR |
| VMA21 |
| VPS11 |
| VPS13A |
| VPS13B |
| VPS13D |
| VPS16 |
| VPS33B |
| VPS41 |
| VPS45 |
| VPS4A |
| VPS53 |
| VRK1 |
| VSX2 |
| VWF |
| WAC |
| WARS1 |
| WARS2 |
| WAS |
| WASF1 |
| WASHC5 |
| WBP11 |
| WDFY3 |
| WDPCP |
| WDR11 |
| WDR19 |
| WDR26 |
| WDR35 |
| WDR37 |
| WDR4 |
| WDR45 |
| WDR45B |
| WDR5 |
| WDR62 |
| WDR73 |
| WDR81 |
| WFS1 |
| WIPI2 |
| WLS |
| WNK3 |
| WNT1 |
| WNT10A |
| WNT10B |
| WNT3 |
| WNT4 |
| WNT5A |
| WNT7A |
| WNT7B |
| WRAP53 |
| WRN |
| WT1 |
| WWOX |
| XDH |
| XIAP |
| XPA |
| XPC |
| XPNPEP3 |
| XPR1 |
| XRCC1 |
| XRCC4 |
| XYLT1 |
| XYLT2 |
| YAP1 |
| YARS2 |
| YIF1B |
| YIPF5 |
| YRDC |
| YWHAG |
| YY1 |
| YY1AP1 |
| ZAP70 |
| ZBTB18 |
| ZBTB20 |
| ZBTB24 |
| ZBTB7A |
| ZC4H2 |
| ZDHHC9 |
| ZEB2 |
| ZFHX4 |
| ZFP57 |
| ZFYVE19 |
| ZFYVE26 |
| ZIC1 |
| ZIC2 |
| ZIC3 |
| ZMIZ1 |
| ZMPSTE24 |
| ZMYM2 |
| ZMYM3 |
| ZMYND10 |
| ZMYND11 |
| ZMYND8 |
| ZNF142 |
| ZNF148 |
| ZNF292 |
| ZNF335 |
| ZNF462 |
| ZNF469 |
| ZNF526 |
| ZNF687 |
| ZNF699 |
| ZNF711 |
| ZNF750 |
| ZNHIT3 |
| ZSWIM6 |
| AAAS |
| AARS1 |
| AARS2 |
| AASS |
METODEBESKRIVELSE OG -BEGRENSNINGER
Metodebeskrivelse og -begrensninger
Det utføres genomsekvensering med kopitallsanalyse.
Se Metodebeskrivelse og -begrensninger
Begrensninger for genpanelet
Følgende blir ikke påvist:
- Lavpenetrante varianter hos mor eller far som kun gir fenotype hos barnet
- Kopitallsvarianter (duplikasjoner eller delesjoner større enn ca 30 basepar), for eksempel delesjon/duplikasjon av ett ekson eller av flere gener
- Variasjon i repeterte sekvenselementer assosiert med for eksempel fragilt X-syndrom eller dystrofia myotonica type 1 eller 2
- Metyleringsavvik/imprintingdefekter som kan være årsak til for eksempel Beckwith-Wiedemann syndrom, Angelman syndrom eller Prader-Willi syndrom
- Lavgradig mosaisisme som for eksempel sees ved enkelte overvekstsyndromer/segmental overvekst og enkelte migrasjonsforstyrrelser i sentralnervesystemet
- Variasjon i mitokondrielt DNA
- Nedarvete dominante varianter blir vurdert kun for imprintede gener, for eksempel UBE3A
Rekvisisjon
- Gå til avsnitt
- Panelbekrivelse
- Gentliste
- METODEBESKRIVELSE OG -BEGRENSNINGER
- Rekvisisjon
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