CENPJ

centromere protein J
OMIM: 609279
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SECKEL SYNDROME TYPE 4 613676, MICROCEPHALY PRIMARY TYPE 6 608393
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 6, SECKEL SYNDROME TYPE 4
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676, MICROCEPHALY PRIMARY TYPE 6 (MCPH6)
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 6, primary, autosomal recessive, 608393, ?Seckel syndrome 4, 613676, Microcephaly, microcephaly primary type 6 (MCPH6), 608393