EOMES

eomesodermin
OMIM: 604615, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red EOMES in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.171

Component of the following Super Panels:

  • Cerebral malformations v3.1
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • microcephaly syndrome

    Red EOMES in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Literature
    Phenotypes
    • microcephaly syndrome

    Red EOMES in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS

    Red EOMES in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS
    Tags
    • watchlist