GTF2E2:Ensemblv90

general transcription factor IIE subunit 2
OMIM: 189964, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber GTF2E2 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 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 1.3802

1 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 1.508

2 reviews 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 0.81

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

Red GTF2E2 in Fetal anomalies


Version 1.482

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

Amber GTF2E2 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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