Deafness_Isolated
Gene: NCOA3

NCOA3 (nuclear receptor coactivator 3)
EnsemblGeneIds (GRCh38): ENSG00000124151
EnsemblGeneIds (GRCh37): ENSG00000124151
OMIM: 601937, Gene2Phenotype
NCOA3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity.
Sources: Literature
Created: 12 Feb 2021, 4:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Non-syndromic hearing loss

Publications

33326993

Created: 12 Feb 2021, 4:45 a.m.

Panel version: 1.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

Non-syndromic hearing loss

OMIM

601937

Clinvar variants

Variants in NCOA3

Penetrance

None

Publications

33326993

Panels with this gene

History Filter Activity

12 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncoa3 has been classified as Red List (Low Evidence).

12 Feb 2021, Gel status: 1

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