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  3. GTF2H4
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Fetal anomalies

Gene: GTF2H4

Amber List (moderate evidence)
GTF2H4 (general transcription factor IIH subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000213780
EnsemblGeneIds (GRCh37): ENSG00000213780
OMIM: 601760, Gene2Phenotype
GTF2H4 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Fassihi et al, 2025: 1 patient, functional analysis via UDS lentiviruscomplementation assay. Only 1 patient so can't yet make green, suggest Amber and wait for more literature.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
xeroderma pigmentosum, complementation group J, MONDO:0980987; Xeroderma pigmentosum, complementation group J, OMIM:621435

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
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
OMIM
601760
Clinvar variants
Variants in GTF2H4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: GTF2H4 was added gene: GTF2H4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS 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, complementation group J, MONDO:0980987; Xeroderma pigmentosum, complementation group J, OMIM:621435