Genomics England
GMS Panels
Panels
Genes and Entities

CDK5RAP2

CDK5 regulatory subunit associated protein 2
OMIM: 608201
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 3, primary, autosomal recessive, OMIM:604804, Microcephaly 3, primary, autosomal recessive, MONDO:0011488
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 3, primary, autosomal recessive, 604804, PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 3, primary, autosomal recessive, 604804, Microcephaly 3, Primary, Autosomal Recessive