Genomics England
GMS Panels
Panels
Genes and Entities

ENAM

enamelin
OMIM: 606585
PanelMode of inheritanceDetails
1 panel
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IB, 104500, Amelogenesis imperfecta, type IC, 204650, Amelogenesis Imperfecta, Dominant, autosomal recessive amelogenesis imperfecta