Ataxia - paediatric
Gene: WDR81EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 12 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 phenotypeCreated: 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
Elena Savva (Victorian Clinical Genetics Services)
No mention of ciliary involvement in OMIM
PMID: 28556411 - 2 families with congenital hydrocephalus, families were homozygous for a PTC and missense
PMID: 21885617 - 1 super giant 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
Sources: Expert listCreated: 4 May 2020, 3:29 a.m.
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
Kristin Rigbye (Victorian Clinical Genetics Services)
Homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).Created: 24 Feb 2020, 4:12 a.m. | Last Modified: 24 Feb 2020, 5:04 a.m.
Panel Version: 0.1435
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review Red
- Expert list
- Expert Review Green
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital hydrocephalus 3 with brain anomalies, 617967
- Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
- Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
- OMIM
- 614218
- Clinvar variants
- Variants in WDR81
- Penetrance
- None
- Publications
- Panels with this gene
-
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Hydrocephalus_Ventriculomegaly
- Joubert syndrome and other neurological ciliopathies
- Cerebellar and Pontocerebellar Hypoplasia
- Ciliopathies
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr81 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WDR81 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WDR81 was added gene: WDR81 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Congenital hydrocephalus 3 with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185