Genomics England
GMS Panels
Panels
Genes and Entities

CIT

citron rho-interacting serine/threonine kinase
OMIM: 605629
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 MICROCEPHALY 615414
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 17, primary, autosomal recessive, OMIM:617090, Microcephaly 17, primary, autosomal recessive, MONDO:0014908
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 17, primary, autosomal recessive, 617090
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal-recessive primary microcephaly, MCPH, Microcephaly 17, primary, autosomal recessive, 617090