Haematuria

Gene: COL4A5

Green List (high evidence)

COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 11 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Ellen Thomas (Genomics England Curator)

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.

Daniel Gale (UCL)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome 1, X-linked OMIM:301050
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL4A5. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for COL4A5 were set to 14514738

29 Jan 2016, Gel status: 4

Set mode of pathogenicity

Ellen Thomas (Genomics England Curator)

Mode of pathogenicity for COL4A5 was changed to Other - please provide details in the comments

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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)

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A5 was added to Familial haematuriapanel. Source: Eligibility statement prior genetic testing

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A5 was added to Familial haematuriapanel. Source: UKGTN

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A5 was added to Familial haematuriapanel. Source: Radboud University Medical Center, Nijmegen

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A5 was added to Familial haematuriapanel. Source: Eligibility statement prior genetic testing

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A5 was added to Familial haematuriapanel. Source: UKGTN

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A5 was added to Familial haematuriapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing