Monogenic hearing loss

Gene: COL4A6

Red List (low evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.

Panel Version: 2.221

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

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

• 23714752

Green List (high evidence)

Comment on mode of inheritance: X-linked recessive = biallelic mutations in females.

Created: 17 Feb 2016, 12:57 p.m.

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

• PMID:23714752
• 7592929
• 7711741
• 7972123
• 8125972
• 8175748
• 8356449
• 8661006
• 9463311

Comment on list classification: Good evidence from OMIM and expert review

Created: 31 Jan 2016, 8:05 a.m.