Deafness_IsolatedAndComplex

Gene: COL4A6

Green List (high evidence)

PMID: 33840813- another 2 families with non-syndromic hearing loss.

Created: 2 Feb 2022, 12:22 a.m. | Last Modified: 2 Feb 2022, 12:22 a.m.

Panel Version: 1.112

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Deafness, X-linked 6, MIM#300914

Publications

• PMID: 33840813

I don't know

Further review of PMID:33840813

Family A:
- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6
- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.

Family B:
- Variant does not segregate within family with the proband being WT in this gene
- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.

In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.

Created: 25 Jul 2023, 8:03 a.m. | Last Modified: 25 Jul 2023, 8:03 a.m.

Panel Version: 1.157

Single family reported with deafness.

Created: 31 Dec 2019, 12:22 a.m. | Last Modified: 31 Dec 2019, 12:22 a.m.

Panel Version: 0.41

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Deafness, X-linked 6, MIM# 300914

Publications

• 23714752
• 33840813