This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: GTF2H5
GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: Core TFIIH subunit p8
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Anophthalmia or microphthalmia
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Publication PMID: 28837162 ent
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GTF2H5 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GTF2H5 was created by ellenmcdonagh