TMEM167A

transmembrane protein 167A
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TMEM167A in Neonatal diabetes


Level 2: Endocrinology
Version 5.17
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
  • Q3_25_promote_green
Amber TMEM167A in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
  • Q3_25_promote_green
Amber TMEM167A in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
    Tags
    • Q3_25_promote_green