Genomics England
GMS Panels
Panels
Genes and Entities

CRIPT

CXXC repeat containing interactor of PDZ3 domain
OMIM: 604594
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature with microcephaly and distinctive facies, 615789