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Hearing loss

Gene: CDC14A

Amber List (moderate evidence)

CDC14A (cell division cycle 14A)
EnsemblGeneIds (GRCh38): ENSG00000079335
EnsemblGeneIds (GRCh37): ENSG00000079335
OMIM: 603504, Gene2Phenotype
CDC14A is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653
Tags
for-review
OMIM
603504
Clinvar variants
Variants in CDC14A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: CDC14A.

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cdc14a has been classified as Amber List (Moderate Evidence).

2 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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