Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: GTF2H5EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Rated green by expert reviewer. It is a confirmed DD gene for Trichothiodystrophy photosensitive, and is green on the ID panel (Version 1.11) for this phenotype after review from 2 experts.Created: 24 Nov 2016, 3:54 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Photosensitive trichothiodystrophy 3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Trichothiodystrophy 3, photosensitive
- Photosensitive trichothiodystrophy 3
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Anophthalmia or microphthalmia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28/Nov/2016: Panel combined and revised due to external and internal review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GTF2H5 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GTF2H5 were set to Trichothiodystrophy 3, photosensitive;Photosensitive trichothiodystrophy 3
Added New Source
Ellen McDonagh (Genomics England Curator)GTF2H5 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)GTF2H5 was created by ellenmcdonagh