Primary ovarian insufficiency
Gene: MCM9

MCM9 (minichromosome maintenance 9 homologous recombination repair factor)
EnsemblGeneIds (GRCh38): ENSG00000111877
EnsemblGeneIds (GRCh37): ENSG00000111877
OMIM: 610098, Gene2Phenotype
MCM9 is in 2 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clear evidence of its pathogenicity in POI.
Created: 9 Jun 2017, 3:17 p.m.

Created: 9 Jun 2017, 3:17 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as associated with the phenotype in OMIM, 3 families reported
Created: 22 May 2017, 9:58 a.m.

Associated with Ovarian dysgenesis and primary ovarian insufficiency in OMIM. 3 variants reported in 3 unrelated consanguineous families. Good functional evidence in mouse model.
Created: 11 May 2017, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 4, 616185

Publications

Created: 11 May 2017, 9:01 a.m.

Panel version: 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Ovarian dysgenesis 4, 616185

OMIM

610098

Clinvar variants

Variants in MCM9

Penetrance

Complete

Publications

Panels with this gene