Deafness_Isolated
Gene: CDC14AEnsemblGeneIds (GRCh38): ENSG00000079335
EnsemblGeneIds (GRCh37): ENSG00000079335
OMIM: 603504, Gene2Phenotype
CDC14A is in 5 panels
2 reviews
Lilian Downie (Victorian Clinical Genetics Services)
Different molecular mechanism for isolated deafness vs deafness with infertility. Two nonsense variants have been reported to segregate in families with males with normal fertility. These variants are truncating in exon 11 of the gene. In one isoform of the gene, NM_033313.2, exon 11 is the last exon, so truncating variants may encode a fully or partially functional protein sufficient to preserve reproductive function.Created: 9 Mar 2020, 10:16 a.m. | Last Modified: 9 Mar 2020, 10:16 a.m.
Panel Version: 0.328
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple affected individuals from unrelated families reported, plus animal model data.Created: 30 Dec 2019, 11:58 p.m. | Last Modified: 30 Dec 2019, 11:58 p.m.
Panel Version: 0.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
- OMIM
- 603504
- Clinvar variants
- Variants in CDC14A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc14a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDC14A was added gene: CDC14A was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services 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