Genomics England
GMS Panels
Panels
Genes and Entities

DLX3

distal-less homeobox 3
OMIM: 600525
PanelMode of inheritanceDetails
2 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amelogenesis imperfecta, type IV, 104510, Amelogenesis Imperfecta, Type IV, 104510, Amelogenesis Imperfecta, Dominant, amelogenesis imperfecta with taurodontism, Trichodontoosseous syndrome, 190320, Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia), hypoplastic AI, taurodontism and kinky hair, Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amelogenesis imperfecta, type IV 104510, Trichodontoosseous syndrome 190320