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  3. WDR62
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Malformations of cortical development

Gene: WDR62

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

1 review

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and cortical dysplasia

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2016, 11:50 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
OMIM
613583
Clinvar variants
Variants in WDR62
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Jan 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: WDR62 were set to

31 Jan 2024, Gel status: 3

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 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

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

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 0

Upload gene information

Alice Gardham (Genomics England)

WDR62 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

WDR62 was added to Malformations of cortical developmentpanel. Sources: Expert Review

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

WDR62 was created by Ushak