Monogenic hearing loss
Gene: COL4A5EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 6 panels
3 reviews
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Jun Shen (Harvard Medical School)
Inheritance:X-linked dominantCreated: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked dominant Inheritance:X-linked dominantCreated: 7 Feb 2016, 8:55 a.m.
Mode of inheritance
Other
Phenotypes
#301050:Alport syndrome[Deafness, sensorineural, especially affecting high frequencies (in about 55% of males and 45% of females); 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
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 8:04 a.m.
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
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- #301050:Alport syndrome
- diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6
- hearing loss
- OMIM
- 303630
- Clinvar variants
- Variants in COL4A5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL4A5 were set to #301050:Alport syndrome; diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; hearing loss
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL4A5 were set to #301050:Alport syndrome; diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6Alport syndrome, 301050; hearing loss
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COL4A5 were set to PMID: 12436246; 12796257; 1330889; 1352287; 1363780; 1376965; 1453602; 1577459; 1598909; 16133187; 1635357; 1672282; 1689491; 1733850; 1783380; 2004755; 21729787; 2349482; 25575550; 6650503; 7706490; 7987301; 8120014; 8132760; 8171024; 8281136; 8356449; 8596916; 8651292; 8662866; 8825605; 8940267; 9150741; 9195222
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (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)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert