Primary ovarian insufficiency

Gene: PMM2

Green List (high evidence)

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clear evidence as early onset POI
Created: 9 Jun 2017, 3:31 p.m.

Publications

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: POI can be a feature of CDG type I
Created: 30 May 2017, 12:24 p.m.
females with CDG syndrome type I have primary ovarian failure
Created: 11 May 2017, 11:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ia 212065

Publications

History Filter Activity

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.

30 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).

30 May 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).

11 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

PMM2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

11 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

PMM2 was created by arianna