CDK5RAP2

CDK5 regulatory subunit associated protein 2
OMIM: 608201, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CDK5RAP2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • 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

Amber CDK5RAP2 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY

Amber CDK5RAP2 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936

    Green CDK5RAP2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.79
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microcephaly 3, primary, autosomal recessive, 604804
    • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY

    Green CDK5RAP2 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly 3, primary, autosomal recessive, 604804