Genomics England
GMS Panels
Panels
Genes and Entities

EDA

ectodysplasin A
OMIM: 300451
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500, ECTODERMAL DYSPLASIA TYPE 1 305100
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ectodermal dysplasia 1 hypohidrotic X-linked, Tooth agenesis, selective, X-linked 1, 313500, Hypohidrotic Ectodermal Dysplasia, Ectodermal Dysplasia 1, Hypohidrotic, X-Linked, Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100