Proteinuric renal disease
Gene: PMM2
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
Comment on list classification: Severe ID condition, nephrotic syndrome is a minor featureCreated: 27 May 2016, 12:45 p.m.
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
Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia #212065
Publications for gene: PMM2 were set to
Source NHS GMS was added to PMM2.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PMM2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
PMM2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing