Intellectual disability
Gene: ATM

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.

Panel Version: 9.299

Comment on list classification: Tagged for expert review to determine if this Green gene should be demoted on this panel.

Biallelic variants in the ATM gene are associated with Ataxia-telangiectasia, an early-onset progressive cerebellar ataxia which comprises progressive neurologic degeneration, oculocutaneous telangiectasias, sinopulmonary infection, and malignancies. Some patients can display mild cognitive impairment and learning difficulties, but this reflects cognitive decline which is secondary to neurodegeneration rather than a primary ID that is a hallmark of the disorder.
Created: 6 May 2025, 11:12 a.m. | Last Modified: 6 May 2025, 11:15 a.m.

Panel Version: 9.15

Created: 6 May 2025, 11:12 a.m.
Last Modified: 6 May 2025, 11:15 a.m.
Panel version: 9.299

Zornitza Stark (Australian Genomics)

I don't know

Progressive cerebellar dysfunction but intellect is typically normal.
Created: 4 Sep 2023, 5:28 a.m. | Last Modified: 4 Sep 2023, 5:28 a.m.

Panel Version: 5.271

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-telangiectasia, MIM#208900

Created: 4 Sep 2023, 5:28 a.m.
Last Modified: 4 Sep 2023, 5:28 a.m.
Panel version: 5.271

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ATAXIA-TELANGIECTASIA; AT

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

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: 27 Jul 2017, 5:07 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; omim_20150205_movement; UKGTN_v12; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
omim.org
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 2:40 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

Green List (high evidence)

Created: 23 Feb 2016, 10:26 a.m.

Panel version: 0.306

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Ataxia-telangiectasia, OMIM:208900

OMIM

607585

Clinvar variants

Variants in ATM

Penetrance

Complete

Publications

Panels with this gene