EDA

ectodysplasin A
OMIM: 300451, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red EDA in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.2

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Other
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
  • Skin peeling/scaling (newborn)

Red EDA in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Skin peeling/scaling (newborn)
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100

Green EDA in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
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

Green EDA in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.22

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
  • Tooth agenesis, selective, X-linked 1, 313500
  • Ectodermal dysplasia 1 hypohidrotic X-linked
  • Hypohidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Red EDA in Rare genetic inflammatory skin disorders


Version 1.40
Latest signed off version: v1.6 (15 Oct 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

Green EDA in Fetal anomalies


Version 1.717
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1
  • ECTODERMAL DYSPLASIA TYPE 1

Green EDA in DDG2P


Version 2.46
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500
    • ECTODERMAL DYSPLASIA TYPE 1 305100

    Red EDA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
    • Tooth
    • agenesis, selective, X-linked 1, 313500

    Green EDA in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tooth agenesis, selective, X-linked 1, 313500
    • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100