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Early onset or syndromic epilepsy
Gene: WDR62

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

20729831

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