Vascular skin disorders
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: On advice from Anna de Burca and Ellen Thomas, changed MOI from 'both monoallelic and biallelic' to 'biallelic' only to match OMIM, which lists AR inheritance for 'Ataxia-telangiectasia, 208900'.Created: 17 Apr 2019, 4:49 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ATM; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ataxia telengiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Familial breast cancer
- Inherited prostate cancer
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Brain cancer pertinent cancer susceptibility
- Intellectual disability
- DDG2P
- Primary ovarian insufficiency
- Inherited pancreatic cancer
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Hereditary ataxia
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Adult onset neurodegenerative disorder
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ATM were set to
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ATM.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ATM was added gene: ATM was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia telengiectasia