TMEM167A

transmembrane protein 167A
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TMEM167A in Mendeliome


Version 1.3382

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related

Green TMEM167A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.348

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related

Green TMEM167A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.249

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related

    Green TMEM167A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.359

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related

    Green TMEM167A in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.147

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related