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Hearing loss

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 10 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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 dominant
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked dominant Inheritance:X-linked dominant
Created: 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 review
Created: 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

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

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)

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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