Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SECKEL SYNDROME TYPE 4 613676, MICROCEPHALY PRIMARY TYPE 6 608393
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 6, SECKEL SYNDROME TYPE 4
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 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676, MICROCEPHALY PRIMARY TYPE 6 (MCPH6)
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
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