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Deafness_IsolatedAndComplex
Gene: CLRN1

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: 0.426

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Usher syndrome, type 3A, MIM# 276902

OMIM

Clinvar variants

Variants in CLRN1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Sep 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).

28 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLRN1 were set to 11524702; 24596593; 22135276; 21675857; 19753315; 27110679; 26943149; 22787034

28 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLRN1 were set to

28 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLRN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLRN1 was added gene: CLRN1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CLRN1 was set to Unknown