Adult solid tumours for rare disease

Gene: ATM

Green List (high evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 29 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment on mode of inheritance: As per updated advice from the cancer clinical team
Created: 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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed to 'both' after feedback from Clare Turnbull.
Created: 27 Jul 2017, 10:58 a.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

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

History Filter Activity

24 Aug 2018, Gel status: 4

Set mode of inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ATM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

5 Mar 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

5th March 2018 - promoted to version 1 after expert review and internal clinical review.

19 Dec 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ATM was added to Adult solid tumours for rare disease panel. Sources: Expert list,Expert Review Green

19 Dec 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

ATM was created by Ellen McDonagh