Monogenic hearing loss
Gene: CDC14A
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 reviewCreated: 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
Multiple affected individuals from unrelated families reported, plus animal model data. Likely to present with apparently isolated deafness in children.
Sources: Expert listCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CDC14A were changed from Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653 to Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653
Tag for-review was removed from gene: CDC14A.
Source Expert Review Green was added to CDC14A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: CDC14A.
Gene: cdc14a has been classified as Amber List (Moderate Evidence).
gene: CDC14A was added gene: CDC14A was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC14A were set to 29293958; 27259055 Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653 Review for gene: CDC14A was set to GREEN gene: CDC14A was marked as current diagnostic