- ABAT 2
- ACBD6 4
- ACER3 4
- ACOX1 3
- ACTB 3
- ADAR 4
- ADCY5 3
- ALDH18A1 4
- ANO3 1
- AP1S2 3
- APTX 1
- ARFGEF3 4
- ARSA 3
- ARX 4
- ASL 4
- ATM 1
- ATP13A2 1
- ATP1A2 1
- ATP1A3 1
- ATP5G3 3
- ATP7B 1
- BCAP31 1
- BCS1L 2
- C19orf12 1
- CACNA1A 1
- CACNA1G 1
- CAMK4 3
- CLN3 1
- CLN5 1
- CLPB 3
- COASY 1
- COX10 1
- COX15 1
- COX20 3
- CSTB 4
- DCAF17 1
- DCC 3
- DDC 2
- DHDDS 3
- DLAT 1
- DLD 1
- DNAJC12 1
- DNAJC6 3
- ECHS1 1
- EIF2AK2 3
- FA2H 1
- FBXO7 1
- FITM2 2
- FOLR1 1
- FOXG1 4
- FOXRED1 3
- FTL 1
- FUCA1 3
- FXN 3
- GBA 2
- GCDH 1
- GCH1 1
- GJC2 1
- GLB1 1
- GLRA1 1
- GLRB 3
- GM2A 1
- GNAL 3
- GNAO1 1
- GNB1 3
- GRIN1 2
- GTPBP2 1
- HCFC1 1
- HECW2 2
- HEXA 3
- HIBCH 1
- HNRNPH1 3
- HPCA 1
- HPRT1 7
- HSD17B10 3
- HSPD1 3
- HTRA2 1
- IFIH1 1
- IMPDH2 3
- IRF2BPL 2
- KCNA1 1
- KCNMA1 1
- KCNQ2 4
- KCTD17 1
- KIF1C 1
- KMT2B 1
- L2HGDH 6
- LRPPRC 1
- MARS2 1
- MECR 1
- MED27 2
- MRE11 1
- MTFMT 1
- NDUFA1 1
- NDUFA10 1
- NDUFA12 3
- NDUFA2 4
- NDUFAF5 1
- NDUFAF6 1
- NDUFS1 1
- NDUFS4 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NGLY1 2
- NKX2-1 2
- NKX6-2 1
- NPC1 1
- NPC2 3
- NUP54 2
- NUS1 2
- OPA3 1
- PANK2 1
- PCCA 1
- PCCB 1
- PDE10A 1
- PDE1B 1
- PDE2A 2
- PDGFB 3
- PDHA1 1
- PDHX 3
- PET100 1
- PINK1 1
- PLA2G6 1
- PNKD 1
- PNKP 1
- PNPT1 4
- POLR3A 1
- PRKN 1
- PRKRA 1
- PRRT2 2
- PTS 1
- QDPR 1
- RAB39B 1
- RNASEH2B 3
- RNASEH2C 3
- RNASET2 1
- RNU7-1 2
- SAMHD1 3
- SCN1A 3
- SCN8A 1
- SERAC1 1
- SETX 2
- SGCE 1
- SHQ1 3
- SLC16A2 3
- SLC18A2 3
- SLC19A3 1
- SLC20A2 1
- SLC2A1 1
- SLC30A10 1
- SLC30A9 1
- SLC39A14 1
- SLC6A3 1
- SLC6A8 1
- SNORD118 3
- SPATA5L1 4
- SPR 3
- SQSTM1 2
- SUCLA2 1
- SUOX 4
- SURF1 1
- SYNJ1 1
- SYT1 2
- TAF1 3
- TARS2 2
- TBC1D24 2
- TH 1
- THAP1 1
- TIMM8A 4
- TMEM151A 2
- TNR 3
- TOR1A 3
- TPK1 4
- TREX1 3
- TSPOAP1 3
- TUBB4A 1
- UBTF 3
- VAC14 1
- VAMP1 2
- VAMP2 3
- VPS13A 1
- VPS13D 1
- VPS16 3
- VPS41 3
- VPS4A 2
- WDR45 1
- WDR73 1
- YIF1B 2
- YY1 1
- ZSWIM6 1
- AAAS 1
- AASS 1
- ABCB7 1
- ACSF3 1
- AFG3L2 7
- ANO10 1
- ATAD1 1
- ATCAY 1
- ATP2B2 1
- AUH 4
- CA8 1
- CIZ1 3
- CLN8 1
- COL6A3 5
- CTSD 1
- CWF19L1 1
- CYP27A1 2
- DNAJC5 1
- ELOVL4 1
- FGF14 1
- GRID2 1
- GRM1 1
- GTPBP1 1
- HCN2 1
- HTT 2
- ITPR1 1
- KCNC3 1
- KCND3 1
- KIF1A 2
- MAL 2
- NTN1 1
- OGDH 1
- PCDH12 2
- PDYN 1
- PLP1 2
- PRKCG 1
- PTPN1 1
- RNASEH2A 4
- SACS 1
- SIL1 1
- SLC1A3 1
- SLC6A5 3
- SNX14 1
- SPG7 2
- STUB1 2
- TGM6 1
- TMEM240 1
- TPP1 1
- TTBK2 1
- WFS1 1
- WWOX 1
- AARS2 1
- ABCA1 1
- ABCB11 1
- ABCB4 1
- ABCD1 1
- ABCD4 1
- ABCG5 1
- ABCG8 1
- ABHD12 1
- ABHD5 1
- ACAD8 1
- ACAD9 1
- ACADM 1
- ACADS 1
- ACADSB 1
- ACADVL 1
- ACAT1 1
- ACO2 1
- ACY1 1
- ADA 1
- ADGRG1 1
- ADSL 1
- AGA 1
- AGK 1
- AGL 1
- AGPS 1
- AGXT 1
- AHI1 1
- AIFM1 2
- AKR1D1 1
- ALAD 1
- ALAS2 1
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH6A1 1
- ALDH7A1 1
- ALDOA 1
- ALDOB 1
- ALG1 1
- ALG11 1
- ALG12 1
- ALG13 1
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALMS1 1
- ALPL 1
- AMACR 1
- AMN 1
- AMPD2 1
- AMT 1
- ANKS6 1
- APOA1 1
- APOA5 1
- APOB 1
- APOC2 1
- APOE 1
- APOPT1 2
- APRT 1
- ARG1 1
- ARL13B 1
- ARL6 1
- ARSB 1
- ARSE 2
- ASAH1 1
- ASPA 1
- ASS1 1
- ATAD3A 1
- ATIC 1
- ATN1 2
- ATP6AP1 1
- ATP6V0A2 1
- ATP7A 1
- ATP8A2 1
- ATP8B1 1
- ATPAF2 1
- ATXN1 3
- ATXN10 2
- ATXN7 3
- B3GALNT2 1
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALT1 1
- B4GALT7 1
- B4GAT1 1
- B9D2 1
- BAAT 1
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BDNF 1
- BOLA3 1
- BTD 1
- C12orf65 2
- C1QBP 1
- C21orf2 2
- C2CD3 1
- C5orf42 2
- C9orf72 5
- CA5A 1
- CACNB4 5
- CAMTA1 1
- CASK 1
- CAT 1
- CBS 1
- CC2D2A 1
- CCDC115 2
- CENPF 1
- CEP104 1
- CEP120 1
- CEP164 1
- CEP290 1
- CEP41 1
- CEP83 1
- CFAP43 1
- CHCHD10 1
- CHKB 1
- CHMP1A 1
- CHMP2B 2
- CHST14 1
- CHST3 1
- CHST6 1
- CHSY1 1
- CISD2 1
- CLCN2 1
- CLDN16 1
- CLDN19 1
- CLN6 1
- CLPP 1
- CNNM2 1
- COA3 1
- COA6 1
- COG1 1
- COG4 1
- COG5 1
- COG6 1
- COG7 1
- COG8 1
- COQ2 1
- COQ4 1
- COQ6 1
- COQ8A 1
- COQ8B 1
- COQ9 1
- COX14 1
- COX6A1 1
- COX6B1 1
- COX7B 1
- CP 2
- CPOX 2
- CPS1 1
- CPT1A 1
- CPT2 1
- CRB2 1
- CSPP1 1
- CTH 1
- CTNS 1
- CTSA 1
- CTSC 1
- CTSK 1
- CUBN 1
- CYC1 1
- CYCS 1
- CYP2U1 1
- CYP7B1 1
- D2HGDH 1
- DAG1 1
- DARS 2
- DARS2 1
- DBH 1
- DBT 1
- DCAF10 1
- DCDC2 1
- DCTN1 1
- DCXR 1
- DDHD2 1
- DDX59 1
- DGUOK 1
- DHCR24 1
- DHCR7 1
- DHFR 1
- DHODH 1
- DHTKD1 1
- DKC1 1
- DMPK 3
- DMXL2 1
- DNA2 1
- DNAH1 1
- DNAJC19 1
- DNM1L 1
- DNMT1 1
- DOLK 1
- DPAGT1 1
- DPM1 1
- DPM2 1
- DPM3 1
- DPYD 1
- DPYS 1
- DRD2 1
- DRD5 1
- DYM 1
- DYNC2H1 1
- DYNC2LI1 1
- EARS2 2
- EBP 1
- EIF2B1 1
- EIF2B2 1
- EIF2B3 1
- EIF2B4 1
- EIF2B5 1
- ELAC2 1
- ENO3 1
- EPG5 1
- EPM2A 1
- ERCC6 1
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EVC 1
- EVC2 1
- EXOSC3 1
- EXT1 1
- EXT2 1
- FAH 1
- FAR1 1
- FARS2 1
- FASTKD2 2
- FBP1 1
- FBXL4 1
- FDXR 1
- FECH 2
- FGFR2 1
- FH 1
- FKRP 1
- FKTN 1
- FLAD1 1
- FLVCR1 1
- FMO3 1
- FOXP2 1
- FTCD 1
- FUT8 1
- G6PC 2
- G6PC3 1
- GAA 1
- GABRG2 1
- GALC 1
- GALE 1
- GALK1 1
- GALNS 1
- GALNT3 1
- GALT 1
- GAMT 2
- GARS 2
- GATM 1
- GBA2 1
- GBE1 1
- GCLC 1
- GDAP1 1
- GFAP 2
- GFER 1
- GFM1 1
- GFPT1 1
- GIF 2
- GK 1
- GLA 1
- GLDC 1
- GLI3 1
- GLIS2 1
- GLRX5 1
- GLUD1 1
- GLUL 1
- GLYCTK 1
- GMPPB 1
- GNE 1
- GNMT 1
- GNPAT 1
- GNPTAB 1
- GNPTG 1
- GNS 1
- GOSR2 1
- GPAA1 1
- GPD1 1
- GPHN 1
- GRHPR 1
- GSS 1
- GTPBP3 1
- GUSB 1
- GYG1 1
- GYS1 1
- GYS2 1
- HAAO 1
- HADH 1
- HADHA 1
- HADHB 1
- HAMP 1
- HCCS 1
- HEXB 1
- HFE 1
- HFE2 2
- HGD 1
- HGSNAT 1
- HLCS 1
- HMBS 2
- HMGCL 1
- HMGCS2 1
- HNF1B 1
- HOGA1 1
- HPD 1
- HPS1 1
- HSD17B4 1
- HSD3B7 1
- HYAL1 1
- HYLS1 1
- IARS2 1
- IBA57 1
- ICK 3
- IDH2 1
- IDS 1
- IDUA 1
- IER3IP1 1
- IFT122 1
- IFT140 1
- IFT172 1
- IFT27 1
- IFT43 1
- IFT52 1
- IFT80 1
- INPP5E 1
- INVS 1
- IQCB1 1
- ISCU 1
- ISG15 1
- ISPD 2
- ITPA 1
- IVD 1
- KARS 2
- KCNJ10 1
- KCNK18 2
- KCNQ3 1
- KIAA0586 1
- KIF7 1
- KYNU 1
- LAMP2 1
- LARGE1 1
- LARS2 1
- LBR 1
- LCAT 1
- LCT 1
- LDHA 1
- LDLR 1
- LDLRAP1 1
- LIAS 1
- LIPA 1
- LIPC 1
- LIPT1 1
- LMBRD1 1
- LONP1 1
- LPIN1 1
- LPL 1
- LZTFL1 1
- MAGT1 1
- MAN1B1 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAPKBP1 1
- MAT1A 2
- MCCC1 1
- MCCC2 1
- MCEE 1
- MCOLN1 2
- MDH2 1
- MFF 1
- MFN2 1
- MFSD8 1
- MGAT2 1
- MGME1 1
- MKKS 1
- MKS1 1
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 2
- MOCS1 1
- MOCS2 1
- MOGS 1
- MPDU1 1
- MPI 1
- MPV17 2
- MR1 1
- MRPL3 1
- MRPS22 1
- MRPS34 1
- MSMO1 1
- MTHFR 1
- MTO1 1
- MTPAP 1
- MTR 1
- MTRR 1
- MTTP 1
- MUT 2
- MVK 1
- NAGA 1
- NAGLU 1
- NAGS 1
- NARS2 1
- NDUFA11 1
- NDUFA4 1
- NDUFA9 1
- NDUFAF1 1
- NDUFAF2 1
- NDUFAF3 1
- NDUFAF4 1
- NDUFB11 1
- NDUFB3 1
- NDUFB9 1
- NDUFS2 1
- NDUFS3 2
- NDUFS6 1
- NDUFV2 1
- NEK1 1
- NEK8 1
- NEU1 1
- NFU1 1
- NHLRC1 1
- NOP56 2
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NSDHL 1
- NT5C3A 1
- NUBPL 1
- NUP62 1
- OAT 1
- OCLN 4
- OCRL 1
- OFD1 1
- OPA1 1
- OPHN1 1
- OPLAH 1
- OTC 1
- OXCT1 1
- PAH 1
- PARK7 1
- PARS2 1
- PAX6 1
- PC 1
- PCBD1 1
- PCK1 1
- PCSK9 1
- PDGFRB 1
- PDHB 1
- PDP1 1
- PDPR 1
- PDSS1 1
- PDSS2 1
- PDX1 1
- PEPD 1
- PEX1 1
- PEX10 1
- PEX11B 1
- PEX12 1
- PEX13 1
- PEX14 1
- PEX16 1
- PEX19 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 1
- PEX7 1
- PFKM 1
- PGAM2 1
- PGAP2 1
- PGAP3 1
- PGK1 1
- PGM1 1
- PGM3 1
- PHGDH 1
- PHKA1 1
- PHKA2 1
- PHKB 1
- PHKG2 1
- PHYH 1
- PIGA 1
- PIGL 1
- PIGM 1
- PIGN 1
- PIGO 1
- PIGT 1
- PIGV 1
- PITX3 1
- PKD1 1
- PKD2 1
- PKHD1 1
- PMM2 1
- PMPCA 1
- PNP 1
- PNPLA6 1
- PNPO 1
- POLG 1
- POLG2 1
- POMGNT1 1
- POMGNT2 1
- POMT1 1
- POMT2 1
- POR 1
- PPA2 1
- PPOX 2
- PPP2R2B 2
- PPT1 1
- PRKAG2 1
- PRNP 4
- PRODH 1
- PRPS1 1
- PSAP 1
- PSAT1 1
- PSEN1 1
- PSPH 1
- PTEN 1
- PTF1A 1
- PUS1 1
- PYCR1 1
- PYGL 1
- PYGM 1
- QARS 2
- RANBP2 1
- RARS2 1
- RBCK1 1
- RBP4 1
- RELN 1
- RFT1 1
- RMND1 1
- RNASEH1 1
- RNF170 1
- RNF216 1
- ROBO3 1
- RPGRIP1L 1
- RPIA 1
- RPL10 1
- RRM2B 1
- RYR1 1
- SAR1B 1
- SARS2 1
- SBDS 1
- SC5D 1
- SCN9A 1
- SCO1 1
- SCO2 1
- SCP2 2
- SDCCAG8 1
- SDHA 1
- SDHAF1 2
- SDHAF2 1
- SDHB 1
- SDHC 1
- SDHD 1
- SEC23B 1
- SEPSECS 1
- SGSH 1
- SI 1
- SKIV2L 2
- SLC12A3 2
- SLC16A1 1
- SLC17A5 1
- SLC19A2 1
- SLC22A5 1
- SLC25A1 1
- SLC25A12 1
- SLC25A13 1
- SLC25A15 1
- SLC25A19 1
- SLC25A20 1
- SLC25A22 1
- SLC25A26 1
- SLC25A3 1
- SLC25A38 1
- SLC25A4 1
- SLC25A46 1
- SLC2A2 1
- SLC35A1 1
- SLC35A2 1
- SLC35C1 1
- SLC35D1 1
- SLC37A4 1
- SLC39A4 1
- SLC39A8 1
- SLC3A1 1
- SLC40A1 1
- SLC46A1 2
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC6A19 1
- SLC6A20 1
- SLC7A7 1
- SLC7A9 1
- SLC9A6 1
- SMPD1 1
- SMPD4 1
- SPTBN2 1
- SPTLC1 1
- SPTLC2 1
- SRD5A3 1
- SSR4 1
- ST3GAL3 1
- ST3GAL5 1
- STS 1
- STT3A 1
- SUCLG1 1
- SUFU 1
- SUMF1 1
- SYNE1 1
- TACO1 1
- TALDO1 1
- TANGO2 1
- TAT 1
- TAZ 2
- TCN2 1
- TCTEX1D2 2
- TCTN1 1
- TCTN2 1
- TCTN3 1
- TERT 1
- TFR2 1
- TIMM50 1
- TINF2 1
- TK2 1
- TMEM107 1
- TMEM126B 1
- TMEM138 1
- TMEM165 1
- TMEM216 1
- TMEM231 1
- TMEM237 1
- TMEM5 2
- TMEM67 1
- TMEM70 1
- TOE1 1
- TRAF3IP1 2
- TREM2 1
- TRIM37 1
- TRMU 1
- TRNT1 1
- TRPM6 1
- TSEN2 1
- TSEN34 1
- TSEN54 1
- TSFM 1
- TTC19 1
- TTC21B 1
- TTC37 2
- TTC8 1
- TTPA 1
- TUBA1A 1
- TUBA8 1
- TUBB2B 1
- TUBB3 1
- TUFM 1
- TUSC3 1
- TWNK 1
- TXNDC15 1
- TYMP 1
- UGT1A1 1
- UMOD 1
- UMPS 1
- UQCRB 1
- UQCRQ 1
- UROC1 1
- UROD 2
- UROS 1
- VARS2 1
- VIPAS39 1
- VKORC1 1
- VLDLR 1
- VPS13B 1
- VPS33B 1
- VPS37A 1
- VPS53 1
- VRK1 1
- WDPCP 1
- WDR19 1
- WDR34 2
- WDR35 1
- WDR81 1
- XDH 1
- XK 2
- XPNPEP3 1
- XPR1 1
- XYLT1 2
- XYLT2 1
- YARS2 1
- ZNF423 1
- MT-ATP6 2
- MT-ATP8 2
- MT-CO1 2
- MT-CO2 2
- MT-CO3 2
- MT-CYB 2
- MT-ND1 2
- MT-ND2 2
- MT-ND3 2
- MT-ND4 2
- MT-ND4L 2
- MT-ND5 2
- MT-ND6 2
- MT-RNR1 2
- MT-RNR2 2
- MT-TA 2
- MT-TC 2
- MT-TD 2
- MT-TE 2
- MT-TF 2
- MT-TG 2
- MT-TH 2
- MT-TI 2
- MT-TK 2
- MT-TL1 2
- MT-TL2 2
- MT-TM 2
- MT-TN 2
- MT-TP 2
- MT-TQ 2
- MT-TR 2
- MT-TS1 2
- MT-TS2 2
- MT-TT 3
- MT-TV 2
- MT-TW 2
- MT-TY 2
Dystonia, chorea or related movement disorder, childhood onset
Gene: ATM Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Green List (high evidence)
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- PanelApp
- Expert Review Green
- London North GLH
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Panels with this gene
-
- Familial breast cancer
- Adult solid tumours cancer susceptibility
- Neurodegenerative disorders, adult onset
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Inherited prostate cancer
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy or pain disorder
- DDG2P
- Inherited breast cancer and ovarian cancer
- Childhood solid tumours cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Ataxia telangiectasia - mutation testing
- COVID-19 research
- Hereditary ataxia
- Fetal anomalies
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
- Childhood solid tumours
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary ataxia, adult onset
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia, 208900 to Ataxia-telangiectasia, OMIM:208900
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Dystonia; Ataxia telangiectasia, 208900
Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)Source PanelApp was added to ATM. Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: ATM was added gene: ATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATM was set to