GTF2H4

general transcription factor IIH subunit 4
OMIM: 601760, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list GTF2H4 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
  • Research
Phenotypes
  • xeroderma pigmentosum
Amber GTF2H4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • xeroderma pigmentosum, complementation group J, MONDO:0980987
  • Xeroderma pigmentosum, complementation group J, OMIM:621435