Primary ovarian insufficiency
Gene: PMM2
PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Clear evidence as early onset POICreated: 9 Jun 2017, 3:31 p.m.
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: POI can be a feature of CDG type ICreated: 30 May 2017, 12:24 p.m.
females with CDG syndrome type I have primary ovarian failureCreated: 11 May 2017, 11:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia 212065
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type Ia 212065
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
- Skeletal ciliopathies
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Ophthalmological ciliopathies
- Likely inborn error of metabolism
- Primary lymphoedema
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Fetal hydrops
- Fetal anomalies
- Congenital hyperinsulinism
- Renal ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Proteinuric renal disease
- DDG2P
- Neurological ciliopathies
- Hereditary neuropathy
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