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STRs in panel
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Skeletal dysplasia

Gene: CLRN1

Red List (low 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, 10:18 a.m. | Last Modified: 28 Sep 2020, 10:18 a.m.
Panel Version: 0.4615

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 3A, MIM# 276902

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

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 Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: CLRN1 was set to