Proteinuric renal disease
Gene: ALG1EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 11 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: 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
- PMID: 27325525
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Not sure why this is on this panel - severe recessive metabolic disorder.Created: 16 May 2016, 8:13 p.m.
Maggie Williams (North Bristol NHS Trust)
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
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Congenital disorder of glycosylation, type Ik #608540
- OMIM
- 605907
- Clinvar variants
- Variants in ALG1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal hydrops
- Fetal anomalies
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Unexplained kidney failure in young people
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Proteinuric renal disease
- DDG2P
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik #608540
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ALG1 were set to
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ALG1.
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)ALG1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)ALG1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing