Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: ATG9A

ATG9A (autophagy related 9A)
EnsemblGeneIds (GRCh38): ENSG00000198925
EnsemblGeneIds (GRCh37): ENSG00000198925
OMIM: 612204, Gene2Phenotype
ATG9A is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single heterozygous case reported, with in vitro functional assay supporting a loss of function mechanism for the missense variant.
Sources: Literature
Created: 28 Nov 2021, 11:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 28 Nov 2021, 11:03 p.m.

Panel version: 0.217

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

Primary ovarian insufficiency

OMIM

612204

Clinvar variants

Variants in ATG9A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atg9a has been classified as Red List (Low Evidence).

28 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes