Undiagnosed neurocutaneous disorders
Gene: ATM

ATM (ATM serine/threonine kinase)
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

Other

Phenotypes

Ataxia-telangiectasia, 208900

OMIM

607585

Clinvar variants

Variants in ATM

Penetrance

Complete

Panels with this gene

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

History Filter Activity

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ATM was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other