Proteinuric renal disease
Gene: COL4A5
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: COL4A5; Suggested initial gene rating: green; Evidence for inclusion: PMID: 29987460; 29270492;Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Alports, Familial benign haematuria
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Alport syndrome presents with haematuria before proteinuria, but this is an important diagnosis not to miss.Created: 16 May 2016, 8:23 p.m.
Heterozygous females often have haematuria and may also exhibit proteinuria with kidney biopsy showing proliferative glomerulonephritis or FSGS with abnormal (usually thinned) glomerular basement membranes. Hemizygous males usually develop Alport syndrome with kidney failure typically in adolescence/early adulthood.Created: 7 Oct 2015, 11:28 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Alport syndrome; proteinuria; haematuria; FSGS
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL4A5 were changed from to Alports; Familial benign haematuria; Alport syndrome; proteinuria; haematuria; FSGS
Publications for gene: COL4A5 were set to
Source NHS GMS was added to COL4A5. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL4A5 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
COL4A5 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
COL4A5 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing