Genomics England
GMS Panels
Panels
Genes and Entities

CNNM4

cyclin and CBS domain divalent metal cation transport mediator 4
OMIM: 607805
PanelMode of inheritanceDetails
2 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jalili syndrome, 217080 (includes amelogenesis imperfecta), cone-rod dystrophy and amelogenesis imperfecta
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Eye Disorders, Jalili syndrome