Childhood solid tumours
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia Telangiectasia
Richard Scott (Genomics England Curator)
Comment on list classification: Established childhood tumour syndromeCreated: 7 Mar 2016, 11:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial breast cancer
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Adult onset neurodegenerative disorder
- Inherited pancreatic cancer
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia Telangiectasia; 208900 to Ataxia-telangiectasia, OMIM:208900
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ATM. Added phenotypes Ataxia Telangiectasia for gene: ATM Publications for gene ATM were changed from 9463314 to 9288106
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to ATM. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Richard Scott (North Thames GMC/UCL)ATM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Created
Richard Scott (North Thames GMC/UCL)ATM was created by Reviewer_03