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  3. CEACAM16
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Deafness_Isolated

Gene: CEACAM16

Red List (low evidence)
CEACAM16 (carcinoembryonic antigen related cell adhesion molecule 16)
EnsemblGeneIds (GRCh38): ENSG00000213892
EnsemblGeneIds (GRCh37): ENSG00000213892
OMIM: 614591, Gene2Phenotype
CEACAM16 is in 5 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Red for isolated childhood onset, only 1 report of childhood onset after aminoglycoside exposure
Created: 28 Jul 2020, 12:06 p.m. | Last Modified: 28 Jul 2020, 12:06 p.m.
Panel Version: 0.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
AD and AR deafness: adult onset

Created: 28 Jul 2020, 12:06 p.m.
Last Modified: 28 Jul 2020, 12:06 p.m.
Panel version: 0.3

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 31 Dec 2019, 12:06 a.m.
Last Modified: 31 Dec 2019, 12:06 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.31

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • 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

28 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ceacam16 has been classified as Red List (Low Evidence).

28 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ceacam16 has been classified as Red List (Low Evidence).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEACAM16 was added gene: CEACAM16 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEACAM16 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CEACAM16 were set to 25589040; 21368133; 22544735; 31249509; 29703829; 30514912 Phenotypes for gene: CEACAM16 were set to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410