1. Panels
  2. Early onset or syndromic epilepsy
  3. WDR62
Genes in panel
Prev Next

Early onset or syndromic epilepsy

Gene: WDR62

Amber List (moderate evidence)
WDR62 (WD repeat domain 62)
EnsemblGeneIds (GRCh38): ENSG00000075702
EnsemblGeneIds (GRCh37): ENSG00000075702
OMIM: 613583, Gene2Phenotype
WDR62 is in 7 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.231

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AR microcephaly & cortical malformations - phenotypic variabililty - seizures are variable
Created: 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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

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.
Created: 4 Sep 2018, 10:55 a.m.

Panel version: 0.380

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 22 Aug 2018, 9:01 a.m.

Panel version: 0.335

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
OMIM
613583
Clinvar variants
Variants in WDR62
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: WDR62 were set to 21834044; 20890278; 20729831; 28377545

31 Jan 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: wdr62 has been classified as Amber List (Moderate Evidence).

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: wdr62 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to WDR62.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to WDR62.

9 Jul 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: WDR62 were set to 21834044; 20890278; 20729831

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

4 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: wdr62 has been classified as Green List (High Evidence).

4 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: wdr62 has been classified as Green List (High Evidence).

4 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: WDR62 was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: WDR62 were set to 21834044; 20890278; 20729831

4 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317

4 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to WDR62. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

WDR62 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

WDR62 was created by Sarah Leigh