Monogenic hearing loss

Gene: CDC14A

Green List (high 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

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review

Created: 29 Jun 2020, 12:33 p.m. | Last Modified: 29 Jun 2020, 12:33 p.m.

Panel Version: 2.21

Linked to Deafness, autosomal recessive 32, with or without immotile sperm #608653 (AR) in OMIM.

10 cases reported -
PMID: 29293958 - Imtiaz  et al 2018 - 8 families segregating different homozygous recessive mutant alleles of CDC14A associated with human deafness DFNB32. Some deaf males homozygous for variants of CDC14A are also infertile. A mouse model with homozygous variants of Cdc14a, consistently showed females were deaf and fertile, while deaf males were infertile

PMID: 27259055 - Delmaghani et al 2016 - report 2 cases with ballelic nonsense mutations in CDC14A and severe to profound congenital deafness. One was a large consanguineous Iranian family, the other an individual originating from Mauritania.

Created: 28 Jan 2020, 10:38 a.m. | Last Modified: 28 Jan 2020, 10:38 a.m.

Panel Version: 2.4

Phenotypes
Deafness, autosomal recessive 32, with or without immotile sperm, 608653

Publications

• 29293958
• 27259055

Green List (high evidence)

Multiple affected individuals from unrelated families reported, plus animal model data. Likely to present with apparently isolated deafness in children.
Sources: Expert list

Created: 2 Jan 2020, 3:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653

Publications

• 29293958
• 27259055

Variants in this GENE are reported as part of current diagnostic practice