1. Genes and Genomic Entities
  2. TMEM147

TMEM147

transmembrane protein 147
OMIM: 613585, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green TMEM147 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TMEM147-related developmental disorder
    Green TMEM147 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, OMIM:620075