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  2. Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
  3. GTF2H4
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Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: GTF2H4

No list
GTF2H4 (general transcription factor IIH subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000213780
EnsemblGeneIds (GRCh37): ENSG00000213780
OMIM: 601760, Gene2Phenotype
GTF2H4 is in 1 panel

1 review

Rhys Dore (Guy's and St Thomas' NHS Foundation Trust)

I don't know

Possible Amber gene.
One patient with a clinical diagnosis of XP with compound heterozygous variants in GTF2H4 with support for loss-of-function from a lentiviral assay.
Sources: Research
Created: 24 Sep 2026, 8:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
xeroderma pigmentosum

Publications

Created: 24 Sep 2026, 8:33 p.m.

Panel version: 3.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • xeroderma pigmentosum
OMIM
601760
Clinvar variants
Variants in GTF2H4
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

24 Sep 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Rhys Dore (Guy's and St Thomas' NHS Foundation Trust)

gene: GTF2H4 was added gene: GTF2H4 was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Research Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H4 were set to 40924475 Phenotypes for gene: GTF2H4 were set to xeroderma pigmentosum Penetrance for gene: GTF2H4 were set to unknown Review for gene: GTF2H4 was set to AMBER