CANT1

calcium activated nucleotidase 1
OMIM: 613165
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epiphyseal dysplasia, multiple, 7, 617719, Desbuquois dysplasia 1, 251450
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1 251450, multiple epiphyseal dysplasia type 7, 617719.