Hereditary spastic paraplegia - childhood onset

Gene: WDR45B

Green List (high evidence)

WDR45B (WD repeat domain 45B)
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 8 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood onset. At least 3 families reported.
Created: 10 May 2019, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

publications-6 patients from 3 unrelated consanguineous families with neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures,mutations found homozygously. In sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations; Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977

Arianna Tucci (Genomics England Curator)

Onset in infancy
Created: 25 Feb 2019, 11:18 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977
OMIM
609226
Clinvar variants
Variants in WDR45B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to WDR45B.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR45B.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to WDR45B.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset at birth

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: WDR45B was added gene: WDR45B was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992; 28503735 Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.