Cerebellar and Pontocerebellar Hypoplasia
Gene: WDR81EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 12 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Associated with cerebellar hypoplasia
PMID: 25558065; Alazami 2015: 1 hom missense reported. Severe cerebellar hypoplasia noted as cause of death. No additional information.
PMID: 21885617: Gulsuner 2011: Hom missense reported in a large consang family as the cause of cerebellar hypoplasia
Komara 2016: 2 sibs in consang fam.
Sources: Expert ReviewCreated: 15 Apr 2020, 4:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr81 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: WDR81 was added gene: WDR81 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 25558065; 21885617 Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Review for gene: WDR81 was set to GREEN