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Ataxia telangiectasia - mutation testing

Gene: ATM

Green List (high evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels

1 review

Eleanor Williams (Genomics England Curator)

ATM has been added to the panel for the clinical indication 'R295 Ataxia telangiectasia - mutation testing' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 14 Jan 2023, 9:26 p.m. | Last Modified: 14 Jan 2023, 9:26 p.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

14 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: ATM was added gene: ATM was added to Ataxia telangiectasia - mutation testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal