Deafness_IsolatedAndComplex
Gene: DCDC2EnsemblGeneIds (GRCh38): ENSG00000146038
EnsemblGeneIds (GRCh37): ENSG00000146038
OMIM: 605755, Gene2Phenotype
DCDC2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported with deafness, some supportive functional data. Rated as LIMITED by ClinGen.
Sources: Expert listCreated: 31 Dec 2019, 12:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 66, MIM# 610212
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Deafness, autosomal recessive 66, MIM# 610212
- OMIM
- 605755
- Clinvar variants
- Variants in DCDC2
- 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: dcdc2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DCDC2 was added gene: DCDC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCDC2 were set to 25601850; 22558177; 25130614 Phenotypes for gene: DCDC2 were set to Deafness, autosomal recessive 66, MIM# 610212 Review for gene: DCDC2 was set to RED