Adult solid tumours cancer susceptibilityGene: ATM
Comment on mode of inheritance: Changed from 'both' monoallelic and biallelic to biallelic after feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England) as monoallelic variants in this gene confer moderate risk.
Created: 20 Aug 2018, 11:53 a.m.
Comment on mode of pathogenicity: Confirmed with Clare Turnbull that loss of function variants should be reported in this gene.
Created: 16 Mar 2018, 9:48 a.m.
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 function
Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Clare Turnbull: Tumor Suppressor. Biallelic ph
Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for ATM was changed to None
Mode of inheritance for ATM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for ATM was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
ATM was added to Adult solid tumourspanel. Source: Expert Review Green
ATM was created by ellenmcdonagh
ATM was added to Adult solid tumourspanel. Sources: Expert list