This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Australian Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Anophthalmia or microphthalmia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- COVID-19 research
- Fetal anomalies
- DDG2P
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: GTF2H5 was added gene: GTF2H5 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: GTF2H5 was set to Unknown