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Epileptic encephalopathy

Gene: WDR45B

Green List (high evidence)

WDR45B (WD repeat domain 45B)
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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