Adult onset hereditary spastic paraplegia
Gene: WDR45BThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - childhood onset only.
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 23 Aug 2021, 11:57 a.m. | Last Modified: 23 Aug 2021, 11:57 a.m.
Panel Version: 1.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Publications
Childhood onset.Created: 22 Sep 2020, 5:42 a.m. | Last Modified: 22 Sep 2020, 5:42 a.m.
Panel Version: 1.7
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
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 panelCreated: 25 Apr 2019, 1:22 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
Tag Q3_21_phenotype was removed from gene: WDR45B.
Source Expert Review Amber was added to WDR45B. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: WDR45B.
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 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Publications for gene: WDR45B were set to
Source Yorkshire and North East GLH was added to WDR45B.
Source Expert Review Green was added to WDR45B. Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal Added 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 for gene: WDR45B Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to WDR45B.
gene: WDR45B was added gene: WDR45B was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: WDR45B was set to