BRIDGE_SPEED_NEURO_20170705
Gene: ATM

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_movement;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 8:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
omim.org
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 1:19 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Ataxia-telangiectasia, 208900
Lymphoma, B-cell non-Hodgkin, somatic
{Breast cancer, susceptibility to}, 114480
Lymphoma, mantle cell
T-cell prolymphocytic leukemia, somatic

OMIM

607585

Clinvar variants

Variants in ATM

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ATM was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created