Monogenic hearing loss
Gene: COL4A5
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Comment on list classification: Good evidence from OMIM and expert reviewCreated: 31 Jan 2016, 8:04 a.m.
Phenotypes for COL4A5 were set to #301050:Alport syndrome; diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; hearing loss
Phenotypes for COL4A5 were set to #301050:Alport syndrome; diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6Alport syndrome, 301050; hearing loss
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
This gene has been classified as Green List (High Evidence).
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 Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
COL4A5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
COL4A5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert