CEP152

centrosomal protein 152
OMIM: 613529
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
MICROCEPHALY PRIMARY TYPE 4 604321, SECKEL SYNDROME TYPE 5 613823
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 4, SECKEL SYNDROME TYPE 5
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 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823, MICROCEPHALY PRIMARY TYPE 4 (MCPH4)
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 9, primary, autosomal recessive, 614852, Seckel syndrome 5, 613823, microcephaly primary type 4 (MCPH4), 604321