Severe microcephaly

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

Alice Gardham (Genomics England)

Comment when marking as ready: Expert list. Recognised on G2P
12 Jan 2017, 10:44 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Primary Microcephaly 2 With or Without Cortical Malformations
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
  • microcephaly cortical malformations and mental retardation (MCMMR), 604317
  • Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
OMIM
613583
Clinvar variants
Variants in WDR62
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

13 Dec 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

WDR62 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

WDR62 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

WDR62 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other

13 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

WDR62 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene WDR62 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WDR62 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WDR62 was created by rfoulger