Primary ovarian insufficiency

Gene: ATM

Red List (low evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 27 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

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.

History Filter Activity

22 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for ATM were set to 2005780; 20301790

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ATM was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

25 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ATM was created by arianna