Deafness_Isolated
Gene: CLRN2EnsemblGeneIds (GRCh38): ENSG00000249581
EnsemblGeneIds (GRCh37): ENSG00000249581
CLRN2 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 117, MIM# 619174
Paul De Fazio (Victorian Clinical Genetics Services)
Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon.
Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.
Rated Amber due to supporting functional studies in mice.
Sources: LiteratureCreated: 1 Feb 2021, 5:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic hearing loss
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Non-syndromic hearing loss
- Deafness, autosomal recessive 117, MIM# 619174
- Clinvar variants
- Variants in CLRN2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM# 619174
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: CLRN2 was added gene: CLRN2 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLRN2 were set to 33496845 Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss Review for gene: CLRN2 was set to AMBER gene: CLRN2 was marked as current diagnostic