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Early onset or syndromic epilepsy v2.491 WDR45B Sarah Leigh Tag for-review was removed from gene: WDR45B.
Early onset or syndromic epilepsy v2.491 WDR45B Sarah Leigh commented on gene: WDR45B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 WDR45B Sarah Leigh Source Expert Review Green was added to WDR45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.407 WDR45B Arina Puzriakova Phenotypes for gene: WDR45B were changed from 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 to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Early onset or syndromic epilepsy v2.60 WDR45B Rebecca Foulger commented on gene: WDR45B: Added 'for-review' tag based on Zornitza's Green review on a gene where an Amber rating was decided at the last GLH review. Of the publications listed, PMID:28503735 (Suleiman et al) report 3 families (2 with seizures). PMID:21937992. Najmabadi et al 2011 identify WDR45B (WDR45L) as a candidate gene for ID. PMID:27431290 (Anazi et al., 2017) identified likely pathogenic alleles in WDR45B in ID individuals. Little information provided about WDR45B phenotype.
Early onset or syndromic epilepsy v2.60 WDR45B Rebecca Foulger Tag for-review tag was added to gene: WDR45B.
Early onset or syndromic epilepsy v2.60 WDR45B Rebecca Foulger Publications for gene: WDR45B were set to 21937992; 28503735
Early onset or syndromic epilepsy v2.0 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Marked gene: WDR45B as ready
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Gene: wdr45b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Classified gene: WDR45B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Gene: wdr45b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.227 WDR45B Rebecca Foulger commented on gene: WDR45B: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.227 WDR45B Rebecca Foulger commented on gene: WDR45B: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary, the evidence is borderline: PMID:28503735 (Suleiman et al) report 6 individuals from 3 families with homozygous pathogenic variants in WDR45B, and 2 of the families (5 indivs) had seizures- seizures were not reported in the sole individual from family 3.
Early onset or syndromic epilepsy v1.191 WDR45B Rebecca Foulger Source Wessex and West Midlands GLH was added to WDR45B.
Early onset or syndromic epilepsy v1.190 WDR45B Rebecca Foulger Source NHS GMS was added to WDR45B.
Early onset or syndromic epilepsy v1.189 WDR45B Rebecca Foulger edited their review of gene: WDR45B: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.145 WDR45B Rebecca Foulger Added comment: Comment on phenotypes: Now (July 9th 2019) associated with a disorder in OMIM (617977).
Early onset or syndromic epilepsy v1.145 WDR45B Rebecca Foulger 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
Early onset or syndromic epilepsy WDR45B Sarah Leigh Added gene to panel