This Panel is marked as Retired
Epileptic encephalopathy
Gene: WDR45B
WDR45B (WD repeat domain 45B)
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 7 panels
1 review
Sarah Leigh (Genomics England Curator)
Not associated with phenotype in OMIM, but as a possible G2P. At least three variants have now been reported as homozygotes in at least three families, in individuals with profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.Created: 12 Jun 2017, 12:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
individuals with profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations
- OMIM
- 609226
- Clinvar variants
- Variants in WDR45B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
12 Jun 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations
12 Jun 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Jun 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)WDR45B was created by sleigh
12 Jun 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)WDR45B was added to Epileptic encephalopathypanel. Sources: Literature