Ataxia and cerebellar anomalies - childhood onset
Gene: ATM
ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- Dystonia, chorea or related movement disorder, childhood onset
- Primary ovarian insufficiency
- Dystonia, chorea or related movement disorder, adult onset
- Intellectual disability
- Inherited pancreatic cancer
- Haematological malignancies for rare disease
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- Neurodegenerative disorders, adult onset
- Ataxia telangiectasia - mutation testing
- Vascular skin disorders
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Inherited ovarian cancer (without breast cancer)
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Hereditary haemorrhagic telangiectasia
- Hereditary ataxia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited prostate cancer
- Ataxia and cerebellar anomalies - childhood onset
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- DDG2P
- Childhood solid tumours
History Filter Activity
15 Jul 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-telangiectasia,; Ataxia-Telangiectasia to Ataxia-telangiectasia, OMIM:208900
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ATM was added gene: ATM was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia,; Ataxia-Telangiectasia