Deafness_IsolatedAndComplex
Gene: CNRIP1

CNRIP1 (cannabinoid receptor interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000119865
EnsemblGeneIds (GRCh37): ENSG00000119865
CNRIP1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members.
Sources: Literature
Created: 2 Jul 2020, 10:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 58 MIM#615654

Publications

Created: 2 Jul 2020, 10:10 p.m.

Panel version: 0.353

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

Deafness, autosomal dominant 58 MIM#615654

Clinvar variants

Variants in CNRIP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnrip1 has been classified as Red List (Low Evidence).

2 Jul 2020, Gel status: 1

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