Hearing lossGene: CDC14A
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
Deafness, autosomal recessive 32, with or without immotile sperm, 608653
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
Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653
Variants in this GENE are reported as part of current diagnostic practice
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