CDK5RAP2

CDK5 regulatory subunit associated protein 2
OMIM: 608201, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CDK5RAP2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

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 0.346

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

Amber CDK5RAP2 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.376
  • 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 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • White matter disorders - childhood onset v4.208
  • Hypotonic infant with a likely central cause v3.1028
  • 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