EED

embryonic ectoderm development
OMIM: 605984, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red EED in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cohen-Gibson syndrome

Green EED in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green EED in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cohen-Gibson syndrome, MIM# 617561

Green EED in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cohen-Gibson syndrome, MIM# 617561

Red EED in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Cohen-Gibson syndrome, MIM# 617561

    Green EED in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cohen-Gibson syndrome, MIM# 617561

    Green EED in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cohen-Gibson syndrome 617561
    • Cohen-Gibson syndrome 617561

    Green EED in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Cohen-Gibson syndrome, MONDO:0060510
    • Cohen-Gibson syndrome, OMIM:617561