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Hearing loss

Gene: CEACAM16

Green List (high evidence)

CEACAM16 (carcinoembryonic antigen related cell adhesion molecule 16)
EnsemblGeneIds (GRCh38): ENSG00000213892
EnsemblGeneIds (GRCh37): ENSG00000213892
OMIM: 614591, Gene2Phenotype
CEACAM16 is in 1 panel

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating from red to green. 3 unrelated cases reported.
Created: 18 Feb 2019, 11:23 a.m.
Associated with Deafness, autosomal dominant 4B (614614) in OMIM.

PMID: 21368133 - Zheng et al 2011 - heterozygosity for a missense mutation (T140P) identified in an American family segregating autosomal dominant deafness.

PMID: 25589040 - Wang et al 2015 - a heterozygous missense mutation in the CEACAM16 gene (G169R) was identified in a Chinese family with DFNA4B. The mutation co-segregated with hearing loss in the family and that it was not present in 200 unrelated control subjects with matched ancestry. In vitro functional expression studies in HEK293 cells showed decreased secretion and defective polymerization of the mutant protein compared to wildtype.

PMID: 26648831 - Hofrichter et al 2015 - a de novo CEACAM16 mutation (NM_001039213, c.1094T>G, p.Leu365Arg) was identified in a parent-child trio without familial history of hearing loss and one affected child.
Created: 18 Feb 2019, 11:20 a.m.

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

3 different mutations, 3 separate reports HGMD. Zheng et al 2011 PMID 21368133); Wang et al 2015 PMID 25589040); Hofrichter et al 2015 PMID 26648831). OMIM #614614
Created: 17 Feb 2019, 4:35 p.m.

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM and not on imprinted gene list.
Created: 17 Feb 2016, 12:39 p.m.
Comment on list classification: Association in one family reported, therefore not enough evidence at this time to use this as a diagnostic gene - review rates this red, therefore demoted from green to red.
Created: 17 Feb 2016, 12:38 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

Only two mutations reported in human patients so far. One segregated in a dominant pedigree (21368133), and another is a de novo variant identified in an affected child (26648831). Both are consistent with dominant hearing loss. Mouse model showed recessive hearing loss (22544735). The gene product is involved in the tectorial membrane and plausible for a hearing function. However, additional evidence is required to move to the green list.
Created: 24 Feb 2016, 11:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#614614:?Deafness, autosomal dominant 4B[Sensorineural hearing loss, progressive bilateral postlingual]

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • #614614:?Deafness, autosomal dominant 4B
  • Sensorineural hearing loss, progressive bilateral postlingual
OMIM
614591
Clinvar variants
Variants in CEACAM16
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CEACAM16 were set to PMID:16139472; 21368133; 7655461

18 Feb 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CEACAM16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ceacam16 has been classified as Green List (High Evidence).

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CEACAM16 were set to #614614:?Deafness, autosomal dominant 4B; Sensorineural hearing loss, progressive bilateral postlingual

17 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CEACAM16 were set to PMID:16139472; 21368133; 7655461

17 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CEACAM16 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CEACAM16 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CEACAM16 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEACAM16 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory