1. Genes and Genomic Entities
  2. TMEM167A

TMEM167A

transmembrane protein 167A
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TMEM167A in Neonatal diabetes


Level 2: Endocrinology
Version 5.20
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
  • gene-checked
Green TMEM167A in Severe microcephaly


Level 2: Neurology
Version 8.36
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
  • gene-checked
Green TMEM167A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
  • gene-checked
Green TMEM167A in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.167
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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
    Tags
    • gene-checked