Proteinuric renal disease
Gene: ALG1
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: ALG1; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 27325525; Other comments: ~3 reported cases in the literature (see PMID: 27325525 for summary). No positive cases detected in cohort of >600 nephrotic syndrome referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ik #608540
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Not sure why this is on this panel - severe recessive metabolic disorder.Created: 16 May 2016, 8:13 p.m.
Currently on UK diagnostic panel, but no positive cases over 300 testedCreated: 19 Oct 2015, 1:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik #608540
Publications for gene: ALG1 were set to
Source NHS GMS was added to ALG1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ALG1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
ALG1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing