Haematuria
Gene: COL4A5
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, Febuary 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, Many relevant publications in pubmed; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided;Created: 3 Feb 2019, 3:19 p.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
Comment on mode of pathogenicity: Missense mutations affecting Cysteine residues may have a greater effect than LOF mutations. A curated list of known pathogenic variants would be possible to put together.Created: 29 Jan 2016, 12:32 p.m.
Comment on list classification: COL4A5 causes X-linked Alports with a lesser phenotype possible in carrier females.Created: 29 Jan 2016, 12:31 p.m.
Heterozygous females may exhibit isolated microscopic haematuria, or may also develop proteinuria and renal impairment in later life. Hemizygous males usually have Alport syndrome.Created: 7 Oct 2015, 1:02 p.m.
Phenotypes
Alport syndrome; proteinuria; haematuria; FSGS
Publications
Phenotypes for gene: COL4A5 were changed from diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; Alport syndrome, 301050; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome; (originally on Alport syndrome gene panel) to Alport syndrome 1, X-linked OMIM:301050
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).
Publications for COL4A5 were set to 14514738
Mode of pathogenicity for COL4A5 was changed to Other - please provide details in the comments
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 Familial haematuriapanel. Source: Eligibility statement prior genetic testing
COL4A5 was added to Familial haematuriapanel. Source: UKGTN
COL4A5 was added to Familial haematuriapanel. Source: Radboud University Medical Center, Nijmegen
COL4A5 was added to Familial haematuriapanel. Source: Eligibility statement prior genetic testing
COL4A5 was added to Familial haematuriapanel. Source: UKGTN
COL4A5 was added to Familial haematuriapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing