Genomics England
GMS Panels
Panels
Genes and Entities

FAM83H

family with sequence similarity 83 member H
OMIM: 611927
PanelMode of inheritanceDetails
1 panel
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amelogenesis imperfecta, type III, 130900, Amelogenesis Imperfecta, Type III, 130900, Hypocalcified AI