Monogenic hearing loss
Gene: COL4A3EnsemblGeneIds (GRCh38): ENSG00000169031
EnsemblGeneIds (GRCh37): ENSG00000169031
OMIM: 120070, Gene2Phenotype
COL4A3 is in 9 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#104200:Alport syndrome, autosomal dominant[Deafness, sensorineural, especially affecting high frequencies; Hypertension; GlomerulonephropathyHematuria, gross and microscopicProteinuriaEnd-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 microscopicProteinuria]; #141200:Hematuria, benign familial[Hematuria, microscopicThin glomerular basement membrane]; #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]
Publications
- PMID:10464328
- 10493512
- 10534397
- 10766752
- 10837460
- 11044206
- 11134255
- 11399763
- 11709013
- 11778052
- 11961012
- 12039968
- 12682293
- 12815141
- 1400291
- 15979458
- 16252232
- 16254142
- 1635348
- 1737849
- 18818312
- 1882840
- 23927549
- 2409091
- 2438283
- 25575550
- 2671463
- 3417661
- 6328527
- 7633417
- 7987301
- 7987396
- 8016138
- 8083201
- 8294492
- 8505332
- 8662866
- 8956999
- 9195222
- 9252346
- 9269635
- 9537506
- 9647515
Details
- Sources
-
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Alport syndrome, autosomal recessive, 203780Hematuria, benign familial, 141200Alport syndrome, autosomal dominant, 104200
- Alportsyndrome,autosomalrecessive,203780Hematuria,benignfamilial,141200Alportsyndrome,autosomaldominant,104200
- OMIM
- 120070
- Clinvar variants
- Variants in COL4A3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert