GTF2H4

general transcription factor IIH subunit 4
OMIM: 601760, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red GTF2H4 in Mendeliome


Version 1.3793

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Xeroderma pigmentosum, complementation group J, MIM# 621435

Red GTF2H4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.375

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Xeroderma pigmentosum, complementation group J, MIM# 621435

Red GTF2H4 in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Xeroderma pigmentosum, complementation group J, MIM# 621435

Red GTF2H4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.496

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Xeroderma pigmentosum, complementation group J, MIM# 621435