Deafness_IsolatedAndComplex
Gene: CEACAM16EnsemblGeneIds (GRCh38): ENSG00000213892
EnsemblGeneIds (GRCh37): ENSG00000213892
OMIM: 614591, Gene2Phenotype
CEACAM16 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least two dominant and three recessive families published; mouse model data.Created: 31 Dec 2019, 12:06 a.m. | Last Modified: 31 Dec 2019, 12:06 a.m.
Panel Version: 0.31
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal dominant 4B, MIM# 614614
- Deafness, autosomal recessive 113, MIM# 618410
- OMIM
- 614591
- Clinvar variants
- Variants in CEACAM16
- 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: ceacam16 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CEACAM16 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CEACAM16 was added gene: CEACAM16 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CEACAM16 was set to Unknown