Monogenic hearing loss

Gene: CD164

Green List (high evidence)

Comment on list classification: There are now 3 unrelated families various ancestries with the same heterozygous CD164 variant (p.Arg192Ter), which segregates in a dominant fashion with bilateral progressive hearing loss. Hence, this gene can be promoted to Green for Monogenic hearing loss.

Created: 9 Jun 2026, 3:41 p.m. | Last Modified: 9 Jun 2026, 3:41 p.m.

Panel Version: 6.20

PMID: 35254497 Oziębło et al., 2022
Family 1 - large Polish pedigree with AD progressive hearing loss; CD164: c.574C>T, p.Arg192Ter segregated in affected individuals
Family 2 - Korean family, 25 yo proband with bilateral progressive hearing loss onset around 22 years old; also het for CD164 p.Arg192Ter
Same variant as reported in PMID 26197441 Nyegaard et al (2015) in a Danish family with hearing loss - recurrent hot spot mutation?
CD164: c.574C>T, p.Arg192Ter - only 2 hets reported in gnomAD v4.1.1, MAF = 0.000001696
Age of onset of hearing loss for all 3 families ranged from newborn stage to adulthood.

PMID: 36454368 Moresco et al., 2023
Family 7 - AD nonsyndromic hearing loss, affected individuals harboured het CD164: c.574C>T, p.Arg192Ter variant - segregated with disease. Seq method: Trio WES.

The assocation between CD164 and autosomal dominant nonsyndromic hearing loss has been classified as Moderate by ClinGen Hearing Loss GCEP in 2024.

Created: 9 Jun 2026, 3:36 p.m. | Last Modified: 9 Jun 2026, 3:37 p.m.

Panel Version: 6.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Deafness, autosomal dominant 66, OMIM:616969

Publications

• 26197441
• 35254497
• 36454368

Red List (low evidence)

Included in our current panel, no class 4 or 5 variants identified. One nonsense variant in literature Nyegaard et al (2015) PMID 26197441

Created: 17 Feb 2019, 4:35 p.m.

Publications

• 26197441

Added at suggestion of Emma Ashton, GOSH
Sources: Expert list

Created: 17 Feb 2019, 4:31 p.m.

Mode of inheritance
Unknown