- 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 1
- 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
- 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
- HCN2 1
- HTT 2
- ITPR1 1
- KCNC3 1
- KCND3 1
- KIF1A 2
- MAL 2
- NTN1 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
Childhood onset dystonia, chorea or related movement disorder
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
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Primary ovarian insufficiency
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited pancreatic cancer
- Haematological malignancies for rare disease
- Intellectual disability
- Ataxia telangiectasia - mutation testing
- Vascular skin disorders
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Inherited ovarian cancer (without breast cancer)
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary haemorrhagic telangiectasia
- Hereditary ataxia
- Inherited prostate cancer
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- DDG2P
- Childhood solid tumours
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
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