PLK4

polo like kinase 4
OMIM: 605031
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171, microcephaly and chorioretinopathy 2, MONDO:0014516
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171, microcephaly and chorioretinopathy 2, MONDO:0014516
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Microcephaly and chorioretinopathy, autosomal recessive, 2, MCCRP2, Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171