GTF2E2

general transcription factor IIE subunit 2
OMIM: 189964, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber GTF2E2 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841

Amber GTF2E2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841

Amber GTF2E2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841

Amber GTF2E2 in Hair disorders


Level 2: Dermatological disorders
Version 0.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
  • MONDO:0014841

Red GTF2E2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, MIM #616943