Early onset or syndromic epilepsy
Gene: WDR62
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 this gene should be rated Amber- the microcephaly panels are more appropriate for testing. Demoted from Green to Amber.Created: 15 Aug 2019, 10:11 a.m. | Last Modified: 15 Aug 2019, 10:11 a.m.
Panel Version: 1.231
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR microcephaly & cortical malformations - phenotypic variabililty - seizures are variableCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 2 primary autosomal recessive with or without cortical malformations, 604317
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants identified, with seizures associated with at least three variants in unrelated cases (PMIDs 21834044, 20890278, 20729831).Created: 4 Sep 2018, 11 a.m.
Comment on phenotypes: Seizures not reported in all cases.Created: 4 Sep 2018, 10:55 a.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: WDR62 were set to 21834044; 20890278; 20729831; 28377545
Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to WDR62.
Source NHS GMS was added to WDR62.
Publications for gene: WDR62 were set to 21834044; 20890278; 20729831
Zornitza Stark: Seizures are part of the pheno
Gene: wdr62 has been classified as Green List (High Evidence).
Gene: wdr62 has been classified as Green List (High Evidence).
Mode of inheritance for gene: WDR62 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR62 were set to 21834044; 20890278; 20729831
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
Expert Review Amber was added to WDR62. Panel: Genetic Epilepsy Syndromes
WDR62 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
WDR62 was created by Sarah Leigh