Adult solid tumours cancer susceptibility

Gene: ATM

Green List (high evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 26 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5

Ellen McDonagh (Genomics England Curator)

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.

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

2 Aug 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATM.

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Tumor Suppressor. Biallelic ph

20 Aug 2018, Gel status: 3

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

16 Mar 2018, Gel status: 3

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATM was changed to None

27 Jul 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

5 Jul 2017, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ATM was added to Adult solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATM was created by ellenmcdonagh

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATM was added to Adult solid tumourspanel. Sources: Expert list