Genes in panel
- AARS 4
- AASS 2
- ABAT 6
- ACOX1 5
- ACTL6B 3
- ADAR 4
- ADARB1 2
- ADGRG1 4
- ADPRHL2 6
- ADSL 6
- AFF3 5
- AGO1 2
- AIMP1 4
- AKT3 4
- ALDH5A1 4
- ALDH7A1 9
- ALG1 4
- ALG11 3
- ALG13 7
- ALG14 2
- ALG3 4
- ALG6 4
- ALG8 5
- ALG9 4
- ALKBH8 7
- ALPL 6
- AMPD2 4
- AMT 4
- ANK2 1
- ANKRD11 5
- ANO4 2
- AP1G1 2
- AP2M1 4
- AP3B2 4
- APC2 4
- ARF1 3
- ARF3 4
- ARFGEF1 4
- ARFGEF2 4
- ARG1 3
- ARHGEF9 8
- ARID1B 5
- ARV1 5
- ARX 7
- ASAH1 3
- ASH1L 3
- ASL 2
- ASNS 3
- ASPA 4
- ASXL3 3
- ATN1 4
- ATP1A1 4
- ATP1A2 9
- ATP1A3 7
- ATP5O 6
- ATP6V0A1 5
- ATP6V0A2 3
- ATP6V0C 5
- ATP6V1A 4
- ATP7A 4
- ATRX 8
- BAP1 2
- BCKDHA 4
- BCKDHB 4
- BCS1L 4
- BOLA3 4
- BRAF 4
- BRAT1 3
- BRSK1 3
- BSCL2 3
- BTD 8
- C12orf57 4
- C12orf66 3
- C2orf69 3
- CACNA1A 10
- CACNA1B 4
- CACNA1C 2
- CACNA1D 4
- CACNA1E 5
- CACNA1G 3
- CACNA1I 4
- CACNA2D2 7
- CAD 3
- CAMSAP1 1
- CAPRIN1 4
- CARS2 2
- CASK 8
- CC2D2A 4
- CCDC88A 7
- CDK19 3
- CDK5 2
- CDKL5 7
- CELF2 4
- CEP85L 4
- CERS1 6
- CHD2 8
- CHD4 3
- CHD5 3
- CHKA 3
- CHRNA2 10
- CHRNA4 9
- CHRNB2 10
- CIC 3
- CLCN3 2
- CLCN4 4
- CLDN5 3
- CLN3 8
- CLN8 7
- CLPB 4
- CLTC 3
- CNKSR2 4
- CNNM2 3
- CNOT9 2
- CNPY3 5
- CNTN2 5
- CNTNAP2 8
- COG7 4
- COL18A1 4
- COL4A1 8
- COL4A2 8
- COL4A3BP 2
- COQ2 4
- COQ4 4
- COQ9 4
- CPLX1 3
- CREBBP 4
- CRELD1 6
- CRNKL1 3
- CSNK2B 4
- CSTB 9
- CTNNA2 4
- CTSD 7
- CTSF 4
- CUL3 3
- CUL4B 2
- CUX1 1
- CUX2 6
- CYFIP2 4
- D2HGDH 3
- DBT 3
- DCX 4
- DDC 2
- DDX3X 3
- DEAF1 7
- DEGS1 3
- DENND5A 3
- DEPDC5 10
- DHDDS 4
- DHPS 4
- DHX30 3
- DIAPH1 2
- DLL1 4
- DMXL2 5
- DNAJC6 6
- DNM1 8
- DNM1L 3
- DOCK7 7
- DOLK 6
- DPAGT1 3
- DPH5 3
- DPM1 3
- DPYD 3
- DROSHA 3
- DTYMK 3
- DYNC1H1 3
- DYRK1A 7
- EARS2 3
- EEF1A2 9
- EEFSEC 1
- EFTUD2 3
- EHMT1 7
- EIF2B1 4
- EIF2B2 3
- EIF2B3 4
- EIF2B4 3
- EIF2B5 3
- EIF2S3 3
- EIF3F 4
- EIF4A2 2
- ELFN1 2
- EMC10 3
- EML1 2
- ENTPD1 3
- EPB41L3 3
- EPG5 3
- EPM2A 7
- ESAM 3
- ETHE1 3
- EXOSC3 3
- EXT2 4
- FAR1 6
- FARS2 3
- FASTKD2 5
- FBXL4 5
- FBXO11 4
- FBXO28 3
- FGF12 4
- FGF13 2
- FGFR3 6
- FKTN 4
- FLNA 6
- FLVCR1 2
- FOLR1 4
- FOXG1 7
- FOXRED1 5
- FRMD5 1
- FRRS1L 4
- FUCA1 4
- FUK 7
- FUT8 5
- FZR1 2
- GABBR2 8
- GABRA1 8
- GABRA2 3
- GABRA5 3
- GABRB1 5
- GABRB2 4
- GABRB3 7
- GABRD 10
- GABRG2 10
- GAD1 3
- GALC 4
- GALNT2 2
- GAMT 8
- GBA 5
- GCSH 6
- GFAP 4
- GLB1 4
- GLDC 4
- GLRA2 3
- GLS 3
- GLUD1 4
- GLUL 5
- GM2A 4
- GNAO1 7
- GNAQ 5
- GNB1 5
- GNB5 4
- GOSR2 8
- GOT2 5
- GPAA1 3
- GPHN 9
- GRIA2 6
- GRIA4 4
- GRIK2 6
- GRIN1 8
- GRIN2A 7
- GRIN2B 7
- GRIN2D 5
- GRM7 3
- GRN 2
- GTF3C3 5
- GTPBP2 5
- H3F3A 7
- H3F3B 8
- HACE1 3
- HAX1 4
- HCFC1 4
- HCN1 7
- HCN2 7
- HECTD4 3
- HECW2 3
- HEPACAM 5
- HERC2 3
- HEXA 4
- HEXB 4
- HID1 3
- HMGCL 3
- HNRNPH2 3
- HNRNPR 6
- HNRNPU 7
- HPDL 3
- HRAS 4
- HSD17B10 2
- HSD17B4 4
- HTRA2 3
- IER3IP1 3
- IFIH1 3
- IKBKG 5
- INPP4A 7
- IQSEC2 7
- IRF2BPL 5
- ITPA 3
- KARS 5
- KAT5 7
- KAT8 6
- KCNA1 8
- KCNA2 8
- KCNA3 2
- KCNB1 7
- KCNC1 8
- KCNC2 4
- KCND2 7
- KCND3 3
- KCNH1 1
- KCNH5 7
- KCNJ10 7
- KCNJ11 4
- KCNK4 4
- KCNMA1 13
- KCNQ2 7
- KCNQ3 7
- KCNQ5 5
- KCNT1 8
- KCNT2 6
- KCTD3 4
- KCTD7 7
- KDM6B 3
- KIAA1109 5
- KIF1A 4
- KIF2A 3
- KIF5C 4
- KLHL20 4
- KMT2E 5
- KPTN 5
- KRAS 4
- LAMC3 1
- LARS 3
- LETM1 3
- LGI1 11
- LIAS 4
- LMBRD2 5
- LNPK 6
- LSS 5
- MACF1 4
- MADD 3
- MAF 3
- MAP2K1 4
- MAP2K2 4
- MARK2 4
- MAST3 2
- MAST4 3
- MBD5 7
- MBOAT7 3
- MDH2 3
- MECP2 8
- MED11 2
- MED12 7
- MED27 1
- MEF2C 7
- MFF 3
- MFSD8 8
- MINPP1 2
- MLC1 3
- MMACHC 3
- MMADHC 3
- MOCS1 8
- MOCS2 8
- MOGS 3
- MPDU1 3
- MTHFR 4
- MTHFS 3
- MTOR 4
- MT-TK 2
- NACC1 2
- NAGA 4
- NAPB 2
- NARS 3
- NARS2 4
- NBEA 3
- NDE1 4
- NDUFA1 4
- NDUFA10 4
- NDUFAF2 4
- NDUFAF5 4
- NDUFS4 4
- NDUFS8 4
- NDUFV1 5
- NEDD4L 5
- NEUROD2 2
- NEXMIF 8
- NGLY1 4
- NHLRC1 8
- NOTCH3 1
- NPRL2 9
- NPRL3 5
- NR4A2 3
- NRROS 1
- NRXN1 9
- NSD1 4
- NSDHL 4
- NSRP1 2
- NTRK2 3
- NUP214 3
- NUS1 3
- OCLN 4
- OGDHL 3
- OPHN1 4
- OTUD6B 3
- OTUD7A 5
- OXR1 3
- P4HTM 4
- PABPC1 4
- PACS1 5
- PACS2 5
- PAFAH1B1 4
- PAH 4
- PAK1 4
- PARS2 3
- PCCA 4
- PCCB 4
- PCDH12 6
- PCDH19 8
- PCDHGC4 2
- PCYT2 5
- PDHA1 4
- PDHX 4
- PET100 3
- PGM2L1 2
- PHACTR1 4
- PHGDH 4
- PI4K2A 3
- PIDD1 2
- PIGA 8
- PIGB 4
- PIGC 4
- PIGG 4
- PIGH 5
- PIGK 3
- PIGM 5
- PIGN 3
- PIGO 4
- PIGP 5
- PIGQ 12
- PIGT 3
- PIGU 2
- PIGW 5
- PIK3R2 4
- PIP5K1C 2
- PLA2G6 3
- PLAA 4
- PLCB1 7
- PLK1 4
- PLPBP 4
- PLXNA1 2
- PMM2 4
- PMPCB 4
- PNKP 7
- PNPLA8 2
- PNPO 8
- PNPT1 3
- POLG 8
- POMGNT1 4
- POMT1 4
- PPFIBP1 3
- PPIL1 2
- PPOX 2
- PPP1R3F 3
- PPP2CA 4
- PPP2R2B 2
- PPP2R5C 2
- PPP3CA 4
- PPT1 9
- PRMT7 3
- PRPF8 3
- PRRT2 8
- PSAP 4
- PTCD3 3
- PTEN 5
- PTPN23 4
- PTS 4
- PUM1 4
- PURA 7
- QARS 8
- RAB11B 5
- RAB18 4
- RAB5C 3
- RAC3 3
- RALA 5
- RALGAPA1 4
- RARS 3
- RARS2 4
- RELN 4
- RFT1 4
- RHEB 3
- RHOBTB2 4
- RMND1 4
- RNASEH2A 3
- RNASEH2B 4
- RNASEH2C 3
- RNASET2 4
- RNF113A 3
- RNF13 7
- RNU2-2P 2
- RNU4-2 5
- RNU5B-1 2
- ROGDI 4
- RORA 5
- RORB 4
- RTN4IP1 3
- RTTN 4
- SAMHD1 3
- SARS 3
- SATB1 1
- SATB2 3
- SCAF4 2
- SCAMP5 5
- SCARB2 7
- SCN1A 8
- SCN1B 9
- SCN2A 8
- SCN3A 3
- SCN8A 12
- SEMA6B 6
- SEPSECS 4
- SERPINI1 3
- SETBP1 5
- SETD1A 3
- SETD1B 5
- SETD5 10
- SGSH 1
- SHQ1 3
- SIK1 7
- SLC12A5 8
- SLC13A3 3
- SLC13A5 7
- SLC16A2 8
- SLC1A2 5
- SLC1A4 4
- SLC25A1 3
- SLC25A12 6
- SLC25A22 7
- SLC2A1 9
- SLC32A1 5
- SLC35A2 4
- SLC38A3 3
- SLC39A8 3
- SLC4A10 3
- SLC6A1 7
- SLC6A8 8
- SLC9A6 7
- SMARCA2 3
- SMARCC2 3
- SMC1A 5
- SMS 8
- SNAP25 4
- SNIP1 7
- SNORD118 4
- SPATA5 5
- SPATA5L1 4
- SPOUT1 2
- SPTAN1 7
- SPTBN1 2
- ST3GAL3 9
- ST3GAL5 4
- STAG1 4
- STAMBP 4
- STRADA 3
- STX1B 7
- STXBP1 10
- SUCLA2 3
- SUOX 3
- SURF1 3
- SYN1 3
- SYNGAP1 6
- SYNJ1 2
- SZT2 6
- TAF8 2
- TANGO2 4
- TARS2 2
- TBC1D24 8
- TBC1D2B 3
- TBCD 3
- TBCK 3
- TBL1XR1 7
- TCF4 7
- TDP2 3
- TFE3 6
- TIAM1 3
- TIMM50 6
- TMEM167A 2
- TMEM222 3
- TMEM63B 4
- TMX2 5
- TNPO2 1
- TPP1 8
- TRA2B 3
- TRAK1 3
- TRAPPC12 5
- TRAPPC4 5
- TREX1 3
- TRIM8 4
- TRIT1 1
- TRPM3 7
- TRPM6 3
- TRPM7 2
- TSC1 5
- TSC2 4
- TSEN54 3
- TUBA1A 3
- TUBB2A 5
- TUBB2B 3
- TUBB3 3
- TUBB4A 4
- TUBG1 4
- TUBGCP2 2
- U2AF2 5
- UBA5 4
- UBAP2L 3
- UBE2A 7
- UBE3A 7
- UBR5 1
- UBR7 2
- UFM1 4
- UFSP2 3
- UGDH 3
- UGGT1 2
- UGP2 5
- UNC13A 1
- UNC80 4
- USP18 2
- VAMP2 4
- VARS 5
- VPS11 4
- WARS2 4
- WASF1 3
- WDR37 2
- WDR45 7
- WDR45B 4
- WDR47 1
- WDR73 4
- WNK3 4
- WWOX 6
- YIPF5 2
- YWHAG 4
- ZBTB18 4
- ZBTB47 3
- ZDHHC9 4
- ZEB2 6
- ZNF142 5
- ZNF335 2
- ZNFX1 2
- ABCA2 3
- ABI2 1
- ADAM22 4
- ADAT3 4
- ADD1 2
- ADGRL1 1
- AIMP2 6
- AJAP1 2
- AMACR 1
- ASTN1 3
- ATP2B1 4
- ATP5A1 5
- ATP6AP2 3
- BAIAP2 2
- BLOC1S1 2
- BORCS5 1
- BORCS8 2
- BSN 2
- CACNA1H 8
- CACNA2D1 3
- CAMK2D 1
- CCDC88C 3
- CCT8 1
- CDC42BPB 3
- CELF4 1
- CELSR3 1
- CLN6 6
- COG3 2
- COG4 4
- COG6 4
- COG8 4
- COLGALT1 2
- COQ6 3
- COX10 4
- COX11 3
- COX15 4
- CPSF3 2
- CSNK1G1 8
- CTU2 1
- CYP27A1 4
- DALRD3 2
- DENND5B 1
- DHCR24 3
- DHCR7 3
- DHRSX 6
- DHX16 2
- DNAJC5 1
- DPM2 5
- EFHC1 7
- EIF2AK2 1
- EMX2 6
- EXOC7 1
- FAM50A 2
- FDFT1 3
- FH 4
- FKRP 4
- FSD1L 1
- GABRA3 1
- GCH1 4
- GFM1 3
- GLI3 4
- GLRA1 8
- GLYCTK 3
- GSS 3
- GTPBP3 4
- GUF1 2
- HCCS 4
- HEATR5B 2
- HLCS 8
- HOXA1 3
- HPRT1 4
- HSPD1 4
- ISPD 5
- JAKMIP1 2
- JKAMP 1
- KATNB1 3
- KCNB2 1
- KDM2A 1
- KIF1BP 8
- LARGE1 4
- LIPT1 1
- LIPT2 4
- LMAN2L 1
- LMNB1 2
- LYST 3
- MANBA 4
- MAST1 4
- MED17 5
- MTR 4
- NCDN 1
- NDP 4
- NDUFA2 5
- NDUFAF3 4
- NDUFAF4 3
- NDUFS1 4
- NDUFS2 4
- NDUFS6 4
- NDUFS7 4
- NECAP1 9
- NRDC 1
- NSF 4
- NUBPL 4
- OTX2 3
- PAK2 1
- PARP6 2
- PDSS2 4
- PEX1 4
- PEX10 3
- PEX12 3
- PEX13 3
- PEX19 3
- PEX2 3
- PEX3 3
- PEX5 3
- PEX6 3
- PEX7 4
- PIGS 2
- POLG2 3
- POMT2 4
- PPP2R1A 1
- PRICKLE1 10
- PRMT9 1
- PRODH 3
- PSAT1 4
- PSPH 4
- PTF1A 3
- PTPMT1 1
- QDPR 4
- RAB11A 1
- RAB3GAP1 4
- RAB3GAP2 4
- RANBP2 6
- RNF2 1
- RNU4ATAC 4
- RPIA 4
- RPS6KC1 1
- RRM2B 3
- RUSC2 4
- RYR2 4
- RYR3 9
- SAMD12 2
- SCO1 3
- SCO2 4
- SDHA 4
- SIX3 4
- SLC31A1 1
- SLC35A1 4
- SLC35A3 4
- SLC45A1 4
- SNF8 1
- SNX27 5
- SPR 5
- SPTBN4 2
- STARD7 1
- SUCLG1 3
- SYNCRIP 2
- TANC2 2
- TBC1D20 3
- TCP1 1
- TEFM 2
- TELO2 4
- TET3 3
- TMEM106B 2
- TMEM70 3
- TNK2 3
- TRAF7 4
- TRAPPC6B 4
- TRIP13 3
- TRRAP 5
- TSEN15 4
- TSEN2 3
- TSEN34 3
- TSFM 3
- TUBA8 3
- TUBB 3
- TXNRD1 3
- UFC1 4
- USP7 4
- VLDLR 4
- VPS50 2
- WDR62 4
- WSB2 1
- XK 2
- YIF1B 2
- ZMIZ1 4
- ZMYM2 4
- AARS2 4
- ADGRV1 4
- ADRA2B 3
- AGMO 2
- AKT1 5
- ALG12 4
- ALG2 4
- BCORL1 2
- BET1 2
- CACNB4 11
- CAMK2G 3
- CAMLG 1
- CASR 2
- CBL 9
- CCDC186 2
- CCND2 4
- CHMP3 1
- CHRM1 2
- CLCN2 4
- CLCN6 4
- CLN5 6
- CPA6 10
- CRH 6
- CSNK2A1 3
- DMBX1 3
- EIF2A 1
- FIG4 4
- FTL 3
- FUT2 1
- GAL 3
- GATAD2B 8
- GATM 8
- GLRB 7
- GNB2 1
- IDH2 5
- INO80 3
- KCNH8 1
- KMT5B 3
- LMNB2 3
- MAGI2 12
- MAPK10 9
- MATN4 3
- MCM3AP 1
- MT-CO3 1
- MT-TL1 6
- MYO1H 2
- NDUFA11 3
- NID1 3
- NRAS 4
- PCDHB4 3
- PCLO 5
- PIK3CA 4
- PRDM8 2
- PRICKLE2 6
- PSMB8 3
- PTCH1 2
- RALGAPB 2
- RNU12 1
- RNU5A-1 1
- RTEL1 1
- RUBCN 4
- SCN2B 6
- SCN9A 11
- SEC24D 3
- SEC31A 1
- SHH 4
- SLC25A19 2
- SLC5A6 4
- SLC6A19 3
- SLC6A5 8
- SLC7A6OS 2
- SRPX2 8
- STIL 2
- TGIF1 2
- TUBA3E 3
- TXN2 1
- UNC13B 2
- ZIC2 2
- PROSC 4
Regions in panel
Prev
Next
-
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss 2 -
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss 2 -
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain 2 -
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss 3 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss 2 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain 2 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 2 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain 2 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss 2 -
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss 2 -
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain 2 -
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss 2 -
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1 -
Xq28 region (includes MECP2) Gain
ISCA-46304-Gain 1 -
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain 1 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 2 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 2
Early onset or syndromic epilepsy
Gene: MYO1H Red List (low evidence)
MYO1H (myosin IH)
EnsemblGeneIds (GRCh38): ENSG00000174527
EnsemblGeneIds (GRCh37): ENSG00000174527
OMIM: 614636, Gene2Phenotype
MYO1H is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000174527
EnsemblGeneIds (GRCh37): ENSG00000174527
OMIM: 614636, Gene2Phenotype
MYO1H is in 4 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen or MONDO. At least one terminating variant reported in three sibs from a single family. One of the sibs died at 11 months of age, the other two were 8 and 15 years at the time of reporting. Not functional studies were performed, but it is predicted that as loss of function effect could result from nonsense-mediated mRNA decay of the transcript (PMID 28779001).Created: 14 Sep 2021, 10:48 a.m. | Last Modified: 14 Sep 2021, 10:48 a.m.
Panel Version: 1.15
Created: 14 Sep 2021, 10:48 a.m.
Last Modified: 14 Sep 2021, 10:48 a.m.
Copied from panel: Familial dysautonomia v1.15
Last Modified: 14 Sep 2021, 10:48 a.m.
Copied from panel: Familial dysautonomia v1.15
Zornitza Stark (Australian Genomics)
Red List (low evidence)
Single family reported with three affected children, homozygous LoF variant.
Sources: LiteratureCreated: 12 Sep 2021, 5:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482
Publications
Created: 12 Sep 2021, 5:45 a.m.
Copied from panel: Familial dysautonomia v1.15
Copied from panel: Familial dysautonomia v1.15
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Expert Review Red
- Phenotypes
-
- ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
- OMIM
- 614636
- Clinvar variants
- Variants in MYO1H
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
14 Sep 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: MYO1H was added gene: MYO1H was added to Genetic epilepsy syndromes. Sources: Expert Review Red,Literature Mode of inheritance for gene: MYO1H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO1H were set to 28779001 Phenotypes for gene: MYO1H were set to ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482