Hair disorders

Gene: GJB6

Green List (high evidence)

DEFINITIVE for Clouston syndrome, more than 10 families.

The GJB6-D13S1830 deletion is a relatively common disease allele in many populations and is classified as pathogenic for hearing loss, frequently identified in homozygosity or in trans with a pathogenic GJB2 variant. This is a deletion of approximately 309kb of DNA including the 5' end of GJB6 and a region upstream of both GJB6 and the GJB2 gene. It has been proposed that GJB6 and GJB2 are co-regulated by a cis-acting element (Ahmad 2007 PMID 17227867).

SNVs in GJB6 itself have not been associated with deafness, and neither has deletion of the gene in mice.

Created: 19 May 2022, 10:45 a.m. | Last Modified: 19 May 2022, 10:45 a.m.

Panel Version: 0.14634

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 3B, MIM# 612643; Deafness, autosomal recessive 1B, MIM# 612645; Ectodermal dysplasia 2, Clouston type, MIM# 129500

Publications

• 11017065
• 23219093
• 11874494
• 18717672
• 27137747
• 25808784
• 19416251
• 26620415
• 17227867