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  3. CLRN1
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Deafness_Isolated

Gene: CLRN1

Green List (high evidence)
CLRN1 (clarin 1)
EnsemblGeneIds (GRCh38): ENSG00000163646
EnsemblGeneIds (GRCh37): ENSG00000163646
OMIM: 606397, Gene2Phenotype
CLRN1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE gene-disease association by ClinGen, multiple families and functional data including animal models.
Created: 28 Sep 2020, 10:17 a.m. | Last Modified: 28 Sep 2020, 10:17 a.m.
Panel Version: 0.426

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 3A, MIM# 276902

Publications

Created: 28 Sep 2020, 10:17 a.m.
Last Modified: 28 Sep 2020, 10:17 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.426

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 3A, MIM# 276902
OMIM
606397
Clinvar variants
Variants in CLRN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clrn1 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLRN1 were changed from Usher syndrome to Usher syndrome, type 3A, MIM# 276902

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLRN1 were set to

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLRN1 was added gene: CLRN1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLRN1 were set to Usher syndrome