Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: COL4A6

Green List (high evidence)

COL4A6 (collagen type IV alpha 6 chain)
EnsemblGeneIds (GRCh38): ENSG00000197565
EnsemblGeneIds (GRCh37): ENSG00000197565
OMIM: 303631, Gene2Phenotype
COL4A6 is in 5 panels

6 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Provisionally associated with ?Deafness, X-linked 6 #300914 (XLR) in OMIM.
Only 1 family reported in PMID: 23714752 - Rost et al 2014 -  a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss with a missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6 in all affected family members. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function.

Pubmed search didn’t find any other cases.
Created: 28 Jan 2020, 10:39 a.m. | Last Modified: 28 Jan 2020, 10:40 a.m.
Panel Version: 2.4

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Out of all the papers listed here, only this one describes the association with deafness, based on a single family.
Created: 2 Jan 2020, 3:52 a.m. | Last Modified: 2 Jan 2020, 3:52 a.m.
Panel Version: 2.4

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Deafness, X-linked 6, MIM#300914

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: X-linked recessive = biallelic mutations in females.
Created: 17 Feb 2016, 12:57 p.m.

Jun Shen (Harvard Medical School)

Inheritance:X-linked recessive
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 7 Feb 2016, 8:55 a.m.

Mode of inheritance
Other

Phenotypes
#300914:?Deafness, X-linked 6[Deafness, sensorineural, bilateralCochlear malformationIncomplete separation of the cochlea from the internal auditory canal]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert review
Created: 31 Jan 2016, 8:05 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #300914:?Deafness, X-linked 6
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
OMIM
303631
Clinvar variants
Variants in COL4A6
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 COL4A6 were set to #300914:?Deafness, X-linked 6; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL4A6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A6 were set to PMID: 23714752; 7592929; 7711741; 7972123; 8125972; 8175748; 8356449; 8661006; 9463311

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).

31 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for COL4A6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

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)

COL4A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert