Primary ovarian insufficiency
Gene: ATM
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
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.
Phenotypes for gene: ATM were changed from Ataxia-telangiectasia 208900 to Ataxia-telangiectasia, OMIM:208900
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for ATM were set to 2005780; 20301790
This gene has been classified as Green List (High Evidence).
ATM was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
ATM was created by arianna