Adult solid tumours for rare disease
Gene: ATMComment on mode of inheritance: As per updated advice from the cancer clinical teamCreated: 24 Aug 2018, 2:27 p.m.
Recommended after review by Clare Turnbull and Lara Hawkes in view of level of risk associated with monoallelic variants.Created: 24 Aug 2018, 2:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on mode of inheritance: Changed to 'both' after feedback from Clare Turnbull.Created: 27 Jul 2017, 10:58 a.m.
Tumor Suppressor. Biallelic phenotype. Gain of functionCreated: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ataxia Telangiectasia
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Phenotypes for gene: ATM were changed from Ataxia Telangiectasia to Ataxia-telangiectasia, OMIM:208900
Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: ATM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
5th March 2018 - promoted to version 1 after expert review and internal clinical review.
ATM was added to Adult solid tumours for rare disease panel. Sources: Expert list,Expert Review Green
ATM was created by Ellen McDonagh