Severe microcephaly

Gene: CDK5RAP2

Green List (high evidence)

CDK5RAP2 (CDK5 regulatory subunit associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000136861
EnsemblGeneIds (GRCh37): ENSG00000136861
OMIM: 608201, Gene2Phenotype
CDK5RAP2 is in 4 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Expert list. Mutations in at least five families
Created: 12 Jan 2017, 11:10 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, Recessive
  • Microcephaly 3, primary, autosomal recessive, 604804
  • Microcephaly 3, Primary, Autosomal Recessive
OMIM
608201
Clinvar variants
Variants in CDK5RAP2
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)

CDK5RAP2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

CDK5RAP2 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)

CDK5RAP2 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)

CDK5RAP2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CDK5RAP2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CDK5RAP2 was created by rfoulger