GTF2E2

general transcription factor IIE subunit 2
OMIM: 189964, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber GTF2E2 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.25
Latest signed off version: v2.7 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Tags
  • Q3_21_rating

Amber GTF2E2 in Ichthyosis and erythrokeratoderma


Version 1.73
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Tags
  • Q3_21_rating

Red GTF2E2 in White matter disorders and cerebral calcification - narrow panel


Version 1.241
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943

    Green GTF2E2 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.315
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943

    Amber GTF2E2 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Amber GTF2E2 in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • DNA Repair-Proficient Trichothiodystrophy

    Green GTF2E2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943