Ciliopathies
Gene: WDR60

WDR60 (WD repeat domain 60)
EnsemblGeneIds (GRCh38): ENSG00000126870
EnsemblGeneIds (GRCh37): ENSG00000126870
OMIM: 615462, Gene2Phenotype
WDR60 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported, three with skeletal ciliopathy and one with RP and polydactyly only.
Created: 7 Jul 2021, 8:33 a.m. | Last Modified: 7 Jul 2021, 8:33 a.m.

Panel Version: 0.447

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa

Publications

Created: 7 Jul 2021, 8:33 a.m.
Last Modified: 7 Jul 2021, 8:33 a.m.
Panel version: 0.447

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Retinitis pigmentosa

OMIM

615462

Clinvar variants

Variants in WDR60

Penetrance

None

Publications

Panels with this gene