Proteinuric renal disease
Gene: PMM2EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: PMM2; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 19474279; PMID: 29229467 ; Other comments: PMM2 variants associated with syndromic features, of which congenital nephrotic syndrome presents in a small number of patientsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia #212065
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Severe ID condition, nephrotic syndrome is a minor featureCreated: 27 May 2016, 12:45 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, but no positive cases over 300 tested
Listed in 1 reviewCreated: 19 Oct 2015, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Congenital disorder of glycosylation, type Ia #212065
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Proteinuric renal disease
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Hereditary neuropathy
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- DDG2P
- Primary ovarian insufficiency
- Intellectual disability
- Fetal hydrops
- Congenital hyperinsulinism
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Skeletal ciliopathies
- Neurological ciliopathies
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia #212065
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PMM2 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PMM2.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PMM2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)PMM2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing