Joubert syndrome and other neurological ciliopathies
Gene: WDR81

WDR81 (WD repeat domain 81)
EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not a ciliary protein.

PMID: 28556411 - 2 families with congenital hydrocephalus, families were homozygous for a PTC and missense

PMID: 21885617 - 1 large family with a homozygous missense. Authors describe the protein as transmembrane protein where the WD repeats support of beta propeller component. Mouse model also described, no mention of a Joubert-type phenotype
Created: 4 May 2020, 9:57 a.m. | Last Modified: 4 May 2020, 9:57 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967

Publications

Created: 4 May 2020, 9:57 a.m.
Last Modified: 4 May 2020, 9:57 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185
Hydrocephalus, congenital, 3, with brain anomalies 617967

OMIM

614218

Clinvar variants

Variants in WDR81

Penetrance

None

Publications

Panels with this gene