Genomics England
GMS Panels
Panels
Genes and Entities

CANT1

calcium activated nucleotidase 1
OMIM: 613165
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1, OMIM:251450
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epiphyseal dysplasia, multiple, 7, 617719, Desbuquois dysplasia 1, 251450
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1 251450, multiple epiphyseal dysplasia type 7, 617719.