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  3. WDR45B
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Hereditary Spastic Paraplegia - paediatric

Gene: WDR45B

Green List (high evidence)
WDR45B (WD repeat domain 45B)
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported (five in total).
Created: 14 Mar 2021, 6:52 a.m. | Last Modified: 14 Mar 2021, 6:52 a.m.
Panel Version: 0.195

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977

Publications

Created: 14 Mar 2021, 6:52 a.m.
Last Modified: 14 Mar 2021, 6:52 a.m.
Panel version: 0.195

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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, MIM#617977
OMIM
609226
Clinvar variants
Variants in WDR45B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr45b has been classified as Green List (High Evidence).

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR45B were changed from 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 to 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, MIM#617977

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDR45B were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: WDR45B was added gene: WDR45B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR45B were set to 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