1. Genes and Genomic Entities
  2. TMEM94

TMEM94

transmembrane protein 94
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMEM94 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Tags
  • gene-checked
Green TMEM94 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
    Tags
    • gene-checked
    Green TMEM94 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
    Tags
    • gene-checked