1. Genes and Genomic Entities
  2. GTF2E2

GTF2E2

general transcription factor IIE subunit 2
OMIM: 189964, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green GTF2E2 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome


Level 2: Dermatology
Version 3.9
Latest signed off version: v3.8 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Green GTF2E2 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.21
Latest signed off version: v4.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Red GTF2E2 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
    Green GTF2E2 in Severe microcephaly


    Level 2: Neurology
    Version 9.26
    Latest signed off version: v9.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
    Amber GTF2E2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • DNA Repair-Proficient Trichothiodystrophy
    Green GTF2E2 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • DNA Repair-Proficient Trichothiodystrophy
    Green GTF2E2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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
    • Literature
    • Literature
    Phenotypes
    • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943