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Infertility and Recurrent Pregnancy Loss

Gene: PMM2

Green List (high evidence)

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 23 panels

1 review

Jasmine Chew (Other)

Green List (high evidence)

FeRGI db- moderate evidence for Congenital disorder of glycosylation (POI)- PMID:31902100, 25497157, 33583911(reported biallelic variants)
Sources: Literature
Created: 22 Jun 2025, 7:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ovarian failure

Publications

History Filter Activity

25 Jul 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmm2 has been classified as Green List (High Evidence).

25 Jul 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMM2 were changed from Primary ovarian failure to Congenital disorder of glycosylation, type Ia, MIM #212065; Primary ovarian failure

25 Jul 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmm2 has been classified as Green List (High Evidence).

22 Jun 2025, Gel status: 0

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

Jasmine Chew (Other)

gene: PMM2 was added gene: PMM2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 31902100; 25497157; 33583911 Phenotypes for gene: PMM2 were set to Primary ovarian failure Review for gene: PMM2 was set to GREEN