Primary ovarian insufficiency
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
The average life expectancy is 25 in classical patients.
In atypical or variant patients, pregnancies and live born offspring have been achieved in at least three affected women in the UK, showing it is not universal.
In classical patients, ovarian dysgenesis has been noted at post mortem.
However, most patients will be identified because of their ataxia and immunodeficiency not POI.Created: 9 Jun 2017, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as normally patients would present with other clinical features and would be recruited under other disease category.Created: 26 May 2017, 11:17 a.m.
Gonadal abnormalities are part of the ataxia-teleangectasia spectrum
Created: 26 May 2017, 10:54 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
- Familial breast cancer
- Inherited prostate cancer
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- COVID-19 research
- Adult onset neurodegenerative disorder
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Hereditary ataxia
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited breast cancer and ovarian cancer
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Hereditary neuropathy or pain disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-telangiectasia 208900 to Ataxia-telangiectasia, OMIM:208900
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for ATM were set to 2005780; 20301790
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)ATM was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
Created
Arianna Tucci (Genomics England Curator)ATM was created by arianna