Hydrocephalus_Ventriculomegaly
Gene: WDR81EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
WDR81 variants reported in 2 families with severe congenital hydrocephalus (PMID 28556411):
Family 13 is a consanguineous couple who lost 2 pregnancies with severe hydrocephalus and cerebellar hypoplasia: a homozygous truncating mutation was identified in WDR81 (NM_001163809.1: c.3286C>T, p. [Gln1096*]).
Family 26 consists of a consanguineous couple with history of stillburth with massive hydrocephalus and absent cerebellum and a male neonate with severe hydrocephalus and Dandy–Walker malformation. A homozygous missense variant in WDR81 was identified (NM_001163809.1:c.845G>A, p. [Gly282Glu]).
Sources: Expert listCreated: 8 Aug 2020, 3 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrcephalus
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hydrocephalus
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WDR81 were changed from Hydrcephalus to Hydrocephalus
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WDR81 was added gene: WDR81 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 28556411 Phenotypes for gene: WDR81 were set to Hydrcephalus Review for gene: WDR81 was set to AMBER