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  3. COL4A4
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Monogenic hearing loss

Gene: COL4A4

Red List (low evidence)
COL4A4 (collagen type IV alpha 4 chain)
EnsemblGeneIds (GRCh38): ENSG00000081052
EnsemblGeneIds (GRCh37): ENSG00000081052
OMIM: 120131, Gene2Phenotype
COL4A4 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#203780:Alport syndrome, autosomal recessive[Deafness, sensorineural, especially affecting high frequencies; Anterior lenticonusLens opacitiesCataractsMyopiaPigmentary changes (' flecks' ) in the perimacular regionCorneal endothelial vesiclesCorneal erosions; Hypertension; GlomerulonephropathyEnd-stage renal failureThinning of the glomerular basement membrane (early in the disease)Thickening of the glomerular basement membrane (later in the disease)Splitting of the glomerular basement membraneDiffuse lamellation of the glomerular basement membrane; Hematuria, gross and microscopicProteinuriaNephrotic syndrome]; #:Hematuria, familial

Publications

Created: 7 Feb 2016, 9:01 a.m.

Panel version: 0.105

Details

Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome 2, autosomal recessive, OMIM:203780
  • Hematuria,familial benign, OMIM:141200
OMIM
120131
Clinvar variants
Variants in COL4A4
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780Hematuria,familial benign; Alportsyndrome,autosomalrecessive,203780Hematuria,familialbenign to Alport syndrome 2, autosomal recessive, OMIM:203780; Hematuria,familial benign, OMIM:141200

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert