- Panels
- Molecular autopsy
- ALMS1
Genes in panel
- AARS2 0
- AASS 0
- ABAT 0
- ABCA1 0
- ABCB11 0
- ABCB4 0
- ABCB7 0
- ABCC9 2
- ABCD1 0
- ABCD4 0
- ABHD5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADS 0
- ACADSB 0
- ACADVL 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSF3 0
- ACTC1 2
- ACTN2 2
- ADAR 0
- AFG3L2 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AIFM1 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALDH6A1 0
- ALDH7A1 0
- ALDOA 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- AMACR 0
- AMN 0
- AMT 0
- ANK2 2
- ANO10 0
- APOA1 0
- APOA5 0
- APOC2 0
- APOE 0
- APOPT1 1
- APRT 0
- APTX 0
- ARG1 0
- ARSA 0
- ARSB 0
- ARSE 1
- ASL 0
- ASPA 0
- ASS1 0
- ATAD3A 0
- ATIC 0
- ATP13A2 0
- ATP6AP1 0
- ATP6V0A2 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATPAF2 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALT1 0
- B4GALT7 0
- B4GAT1 0
- BAAT 0
- BAG3 1
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BOLA3 0
- BRAF 1
- BTD 0
- C12orf65 1
- C19orf12 0
- C1QBP 0
- CA5A 0
- CACNA1C 2
- CACNB2 2
- CALM1 2
- CALM2 0
- CASQ2 2
- CAT 0
- CBL 1
- CBS 0
- CCDC115 1
- CHCHD10 0
- CHKB 0
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPB 0
- CLPP 0
- CNNM2 0
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COL12A1 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COQ9 0
- COX10 0
- COX14 0
- COX15 1
- COX20 0
- COX6A1 0
- COX6B1 0
- COX7B 0
- CP 0
- CPOX 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CSRP3 2
- CTH 0
- CTNS 0
- CTSA 0
- CTSD 0
- CTSK 0
- CUBN 0
- CYC1 0
- CYP27A1 0
- D2HGDH 0
- DAG1 0
- DARS 1
- DARS2 0
- DBH 0
- DBT 0
- DDC 0
- DES 2
- DGUOK 0
- DHFR 0
- DHTKD1 0
- DLAT 0
- DLD 0
- DMD 1
- DNA2 0
- DNAJC12 0
- DNAJC19 1
- DNAJC5 0
- DNM1L 0
- DOLK 1
- DPAGT1 0
- DPM1 0
- DPM2 0
- DPYD 0
- DPYS 0
- DSC2 2
- DSG2 2
- DSP 2
- DYM 0
- EARS2 0
- EBP 0
- ECHS1 0
- ELAC2 0
- ENO3 0
- EPG5 0
- EPM2A 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EXT1 0
- EXT2 0
- EYA4 2
- FA2H 0
- FAH 0
- FAR1 0
- FARS2 0
- FASTKD2 0
- FBP1 0
- FBXL4 0
- FDXR 0
- FH 0
- FHL1 2
- FKRP 1
- FKTN 1
- FLAD1 0
- FMO3 0
- FOLR1 0
- FOXRED1 0
- FUCA1 0
- FUT8 0
- G6PC 1
- G6PC3 0
- GAA 1
- GABRG2 0
- GALC 0
- GALE 0
- GALK1 0
- GALNS 0
- GALNT3 0
- GALT 0
- GARS 1
- GATM 0
- GBA 0
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 0
- GDAP1 0
- GFER 0
- GFM1 0
- GFPT1 0
- GIF 1
- GLA 2
- GLB1 0
- GLDC 0
- GLRA1 0
- GLRX5 0
- GLUD1 0
- GLYCTK 0
- GM2A 0
- GMPPB 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPD1 0
- GPD1L 2
- GPHN 0
- GRHPR 0
- GSS 0
- GTPBP3 0
- GUSB 0
- GYG1 0
- GYS1 0
- GYS2 0
- HAAO 0
- HADHA 1
- HADHB 0
- HAMP 0
- HCCS 0
- HCFC1 0
- HCN4 2
- HEXA 0
- HEXB 0
- HFE 1
- HFE2 1
- HGD 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMBS 0
- HMGCL 0
- HMGCS2 0
- HOGA1 0
- HPRT1 0
- HRAS 1
- HSD17B4 0
- HSD3B7 0
- HSPD1 0
- HTRA2 0
- HYAL1 0
- IARS2 0
- IBA57 0
- IDH2 0
- IDS 0
- IDUA 0
- IER3IP1 0
- INPP5K 0
- ISPD 1
- ITGA7 0
- ITPA 0
- IVD 0
- JUP 2
- KARS 2
- KCNE1 2
- KCNE2 2
- KCNE3 2
- KCNH2 2
- KCNJ2 2
- KCNJ5 2
- KCNQ1 2
- KRAS 1
- KYNU 0
- L2HGDH 0
- LAMA2 1
- LAMP2 2
- LARGE1 0
- LARS2 0
- LCAT 0
- LCT 0
- LDB3 1
- LDHA 0
- LIAS 0
- LIPA 0
- LIPT1 0
- LMBRD1 0
- LMNA 2
- LONP1 0
- LPIN1 0
- LPL 0
- LRPPRC 0
- LZTR1 0
- MAN1B1 0
- MAN2B1 0
- MAP2K1 1
- MAP2K2 1
- MARS2 0
- MAT1A 0
- MCCC1 0
- MCCC2 0
- MCEE 0
- MCOLN1 0
- MDH2 0
- MFF 0
- MFN2 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MICU1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOGS 0
- MPDU1 0
- MPI 0
- MPV17 0
- MRPL44 1
- MRPS22 0
- MRPS34 0
- MSMO1 0
- MT-ATP6 0
- MT-ATP8 0
- MT-CO1 0
- MT-CO2 0
- MT-CO3 0
- MT-CYB 0
- MTHFR 0
- MT-ND1 0
- MT-ND2 0
- MT-ND3 0
- MT-ND4 0
- MT-ND4L 0
- MT-ND5 0
- MT-ND6 0
- MTO1 0
- MTR 0
- MT-RNR1 0
- MTRR 0
- MT-TA 0
- MT-TC 0
- MT-TD 0
- MT-TE 0
- MT-TF 0
- MT-TG 0
- MT-TH 0
- MT-TI 0
- MT-TK 0
- MT-TL1 0
- MT-TL2 0
- MT-TM 0
- MT-TN 0
- MTTP 0
- MT-TP 0
- MT-TQ 0
- MT-TR 0
- MT-TS1 0
- MT-TS2 0
- MT-TV 0
- MT-TW 0
- MT-TY 0
- MUT 1
- MYBPC3 2
- MYH6 2
- MYH7 2
- MYL2 2
- MYL3 2
- MYMK 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NARS2 0
- NDUFA1 1
- NDUFA10 0
- NDUFA11 0
- NDUFA2 0
- NDUFAF1 0
- NDUFAF2 0
- NDUFAF3 0
- NDUFAF4 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFB11 0
- NDUFB3 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEU1 0
- NEXN 2
- NF1 0
- NFU1 0
- NGLY1 0
- NHLRC1 0
- NPC1 0
- NPC2 0
- NRAS 1
- NSDHL 0
- NT5C3A 0
- NUBPL 0
- OAT 0
- OPA1 0
- OPA3 0
- OTC 0
- OXCT1 0
- PAH 0
- PC 0
- PCBD1 0
- PCCA 0
- PCCB 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHKA1 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHOX2B 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PKP2 2
- PLA2G6 0
- PLN 2
- PMM2 0
- PMPCA 0
- PNPO 0
- PNPT1 0
- POLG 0
- POLG2 1
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMT1 0
- POMT2 0
- PPA2 1
- PPOX 0
- PPP1CB 0
- PPP1R13L 0
- PPT1 0
- PRKAG2 2
- PRODH 0
- PSAP 0
- PTPN11 1
- PUS1 0
- PYCR1 0
- PYGL 0
- PYGM 0
- QDPR 0
- RAB3GAP2 0
- RAF1 1
- RARS2 0
- RBCK1 0
- RBM20 2
- RFT1 0
- RIT1 0
- RMND1 0
- RNASEH1 0
- ROBO3 0
- RPIA 0
- RPL10 0
- RRM2B 0
- RYR1 0
- RYR2 2
- SACS 0
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SCN10A 1
- SCN1B 2
- SCN3B 2
- SCN5A 2
- SCO1 0
- SCO2 0
- SCP2 0
- SDHA 1
- SDHAF1 0
- SDHB 0
- SDHD 0
- SEC23B 0
- SELENON 0
- SERAC1 0
- SGCD 2
- SGSH 0
- SHOC2 1
- SI 0
- SLC16A1 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 1
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A20 0
- SLC25A22 0
- SLC25A26 0
- SLC25A3 0
- SLC25A38 0
- SLC25A4 3
- SLC25A46 0
- SLC2A2 0
- SLC30A10 0
- SLC35A1 1
- SLC35C1 0
- SLC35D1 0
- SLC37A4 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC40A1 0
- SLC46A1 0
- SLC4A3 0
- SLC52A2 0
- SLC52A3 0
- SLC5A1 0
- SLC6A19 1
- SLC7A7 0
- SMPD1 0
- SNTA1 3
- SOS1 1
- SOS2 0
- SPG7 0
- SPRED1 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYNE1 0
- TACO1 0
- TALDO1 0
- TANGO2 0
- TAZ 1
- TCAP 3
- TFR2 0
- TIMM8A 0
- TK2 0
- TMEM165 0
- TMEM43 2
- TMEM5 1
- TMEM70 0
- TNNC1 2
- TNNI3 2
- TNNI3K 1
- TNNT2 2
- TPK1 0
- TPM1 2
- TPP1 0
- TRDN 2
- TRIM37 0
- TRMU 0
- TRNT1 0
- TRPM4 2
- TRPM6 0
- TSFM 0
- TTC19 0
- TTN 2
- TUSC3 0
- TWNK 0
- TYMP 0
- UGT1A1 0
- UMPS 0
- UROD 0
- UROS 0
- VARS2 0
- VCL 2
- WDR45 0
- XDH 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ABCG5 0
- ABCG8 0
- ABHD12 0
- ACTA1 1
- ACY1 0
- ADA 0
- ADSL 0
- ALAS2 0
- ALDH3A2 0
- ALG13 0
- ALPL 0
- ANKRD1 1
- APOB 0
- ASAH1 0
- CACNA2D1 2
- CISD2 0
- CLDN16 0
- CLDN19 0
- COA3 0
- COA6 0
- COL4A1 0
- CRYAB 1
- CSTB 0
- CTSC 0
- CYCS 0
- CYP7B1 0
- DCC 0
- DCXR 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DHODH 0
- DPM3 0
- DYSF 0
- FECH 0
- FGFR2 0
- FLNC 1
- FTCD 0
- FXN 1
- GAMT 0
- GATAD1 1
- GK 0
- GLUL 0
- GNMT 0
- HADH 0
- HPD 0
- HPS1 0
- HSD17B10 0
- ISCU 0
- JPH2 1
- KCNJ8 1
- LBR 0
- LDLR 0
- LDLRAP1 0
- LIPC 0
- MAGT1 0
- MANBA 0
- MAOA 0
- MOCS1 0
- MOCS2 0
- MRPL3 0
- MTFMT 0
- MTPAP 0
- MT-RNR2 0
- MT-TT 0
- MVK 0
- MYLK2 2
- MYPN 1
- NDUFA4 0
- NDUFB9 0
- OCRL 0
- OPLAH 0
- PANK2 0
- PARS2 1
- PCK1 0
- PCSK9 0
- PDPR 0
- PEPD 0
- PGAM2 0
- PHGDH 0
- PIGM 0
- PINK1 0
- PNP 0
- POR 0
- PRPS1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PSPH 0
- PTS 0
- QARS 1
- RANBP2 1
- RBP4 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- SC5D 0
- SDHAF2 0
- SDHC 0
- SETX 0
- SKIV2L 0
- SLC12A3 0
- SLC18A2 0
- SLC25A12 0
- SLC2A1 0
- SLC35A2 0
- SLC3A1 0
- SLC6A3 0
- SLC6A8 0
- SLC7A9 0
- SPR 0
- SPTLC1 0
- SPTLC2 0
- ST3GAL3 0
- STS 0
- STT3A 0
- TARS2 0
- TAT 0
- TCN2 0
- TH 0
- TIMM50 0
- TMEM126B 0
- TREX1 0
- TTC37 0
- TTPA 0
- TTR 2
- TUFM 0
- UMOD 0
- UQCRB 0
- UQCRQ 1
- UROC1 0
- VIPAS39 0
- VKORC1 0
- VPS33B 0
- WFS1 0
- XPNPEP3 0
- A2ML1 0
- ABCG2 0
- AHCY 0
- AKAP9 2
- ALDH1B1 0
- ALG10 1
- ALG10B 1
- ALG14 0
- ALG2 0
- ALMS1 1
- AMPD1 0
- ANO5 0
- AOX1 0
- ARSG 0
- ASCL1 0
- ATAD3B 0
- ATP5A1 1
- ATP5B 1
- ATP5C1 1
- ATP5E 1
- ATP5G1 1
- ATP5G2 1
- ATP5G3 1
- ATP5I 1
- ATP5J 1
- ATP5O 1
- ATXN7 0
- BCAT1 0
- BCAT2 0
- BDNF 0
- BOLA1 0
- BOLA2 0
- C1GALT1C1 0
- CAD 0
- CALM3 0
- CALR3 1
- CARS2 0
- CAV3 1
- CAVIN4 0
- CD320 0
- CEP89 0
- CETP 0
- CLPS 0
- CNDP1 0
- COA1 0
- COA5 0
- COG2 0
- COL4A2 0
- COQ7 0
- COX4I1 0
- COX4I2 0
- COX5A 0
- COX5B 0
- COX6C 0
- COX7A1 0
- COX7A2 0
- COX7B2 0
- COX7C 0
- COX8A 0
- CTF1 0
- CTNNA3 0
- CYP7A1 0
- DDOST 0
- DHFR2 0
- DLG1 0
- DLST 0
- DMGDH 0
- DMPK 0
- DNM2 0
- DPEP1 0
- DPP6 0
- DTD1 0
- DTNA 1
- DUX4 0
- ECSIT 0
- EDN3 0
- EGF 0
- EMD 1
- ERCC6L2 0
- FBP2 0
- FDX2 0
- FHL2 0
- FOLR2 0
- FOLR3 0
- FXYD2 0
- GALNT12 0
- GATB 0
- GATC 0
- GCSH 0
- GDNF 0
- GFM2 0
- GGT1 0
- GJA5 1
- GLS 0
- GORAB 0
- HAL 0
- HARS2 0
- HSPA9 0
- HYKK 0
- IDH3B 0
- ILK 1
- ISCA2 0
- KCNA5 1
- KCND2 0
- KCND3 1
- KCNE5 0
- KHK 0
- KLF10 1
- LACTB 0
- LAMA4 1
- LARS 1
- LETM1 0
- LFNG 0
- LIPI 0
- LIPT2 0
- LRP5 0
- LYRM4 0
- LYRM7 0
- MECR 0
- MIB1 1
- MPC1 0
- MPO 0
- MRPL12 0
- MRPL40 0
- MRPS16 0
- MRPS2 0
- MRPS23 0
- MRPS7 0
- MTHFD1 0
- MYO6 0
- MYOM1 0
- MYOZ2 1
- NADK2 0
- NAT8L 0
- NAXE 0
- NDUFA12 0
- NDUFA13 0
- NDUFA3 0
- NDUFA5 0
- NDUFA6 0
- NDUFA7 0
- NDUFA8 0
- NDUFA9 0
- NDUFAB1 0
- NDUFB1 0
- NDUFB10 0
- NDUFB2 0
- NDUFB4 0
- NDUFB5 0
- NDUFB6 0
- NDUFB7 0
- NDUFB8 0
- NDUFC1 0
- NDUFC2 0
- NDUFS5 0
- NDUFV3 0
- NEBL 0
- NFS1 0
- NKX2-5 1
- NNT 0
- NOS1AP 0
- NPPA 1
- NT5C 0
- NUP62 0
- NUS1 0
- OGDH 0
- OXA1L 0
- PABPN1 0
- PDK1 0
- PDK2 0
- PDK3 0
- PDK4 0
- PDLIM3 1
- PDP2 0
- PDXK 0
- PEX11A 0
- PHKG1 0
- PHYKPL 0
- PIGW 0
- PITRM1 1
- PLEC 0
- PNLIP 0
- PNPLA4 0
- PNPLA8 0
- POP1 0
- PPM1B 0
- PPM1K 0
- PRDM16 1
- PREPL 0
- PTCD1 0
- PTPRZ1 0
- QRSL1 0
- RANGRF 1
- RASA2 0
- RET 0
- RTN4IP1 0
- SARDH 0
- SCARB1 0
- SCN2B 0
- SCN4B 2
- SFXN4 0
- SGCB 1
- SGCG 1
- SHPK 0
- SLC22A4 0
- SLC25A2 0
- SLC25A40 0
- SLC25A42 0
- SLC27A5 0
- SLC35A3 0
- SLC36A2 0
- SLC52A1 0
- SLC6A20 1
- SLC6A4 0
- SLCO1B1 0
- SLCO1B3 0
- SLMAP 0
- SMCHD1 0
- SRRT 0
- STAT2 0
- STT3B 0
- SUCLG2 0
- SUGCT 0
- SYNE2 0
- TBX20 1
- TCN1 0
- TDO2 0
- TGFB3 1
- TIMM44 0
- TM6SF2 0
- TMEM126A 0
- TMEM199 1
- TMPO 2
- TPMT 0
- TRAP1 0
- TRAPPC11 0
- TREH 0
- TRIM63 0
- TRIT1 0
- TRMT10C 0
- TRMT5 0
- TSPYL1 0
- TXN2 0
- TXNRD2 1
- UPB1 0
- UQCC2 0
- UQCC3 0
- UQCRC1 0
- UQCRC2 0
- UQCRFS1 0
- UQCRH 0
- USF1 0
- VPS13C 0
- WARS2 0
- XK 0
This Panel is marked as Internal
Molecular autopsy
Gene: ALMS1 Red List (low evidence)
ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
1 review
Ellen McDonagh (Genomics England Curator)
I don't know
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.
Panel version: 0.86
Panel version: 0.86
Details
- Sources
-
- London South GLH
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Ophthalmological ciliopathies
- Severe early-onset obesity
- Limb disorders
- Fetal anomalies
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Childhood onset dystonia, chorea or related movement disorder
- Alstrom syndrome
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Proteinuric renal disease
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Glaucoma (developmental)
- Structural eye disease
History Filter Activity
20 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: ALMS1 was added gene: ALMS1 was added to Molecular autopsy. Sources: London South GLH Mode of inheritance for gene: ALMS1 was set to