White matter disorders and cerebral calcification - narrow panel
Gene: GTF2H5EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Ivone Leong (Genomics England Curator)
This gene is associated with a phenotype in OMIM and Gene2Phenotype. Based on the available evidence there is not enough evidence to support a gene-disease association. This gene should be demoted to Amber/Red at the next review.Created: 2 Jun 2021, 12:55 p.m. | Last Modified: 2 Jun 2021, 12:55 p.m.
Panel Version: 1.132
Comment on publications: 5 unrelated cases of patients with variants in this gene. There was no mention of any white matter changes in patients described in PMID: 24986372 and 15220921. PMID: 30359777, the affected patient had delayed myelination.Created: 2 Jun 2021, 12:54 p.m. | Last Modified: 2 Jun 2021, 12:54 p.m.
Panel Version: 1.132
Zornitza Stark (Australian Genomics)
White matter changes have been reported in association with trichothiodystrophy, but not in association with this particular gene.Created: 15 Sep 2020, 10:48 a.m. | Last Modified: 15 Sep 2020, 10:48 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive 616395
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- delayed myelination
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- None
- Publications
- 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
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: GTF2H5. Tag Q2_21_expert_review was removed from gene: GTF2H5.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Amber was added to GTF2H5. Source NHS GMS was added to GTF2H5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: GTF2H5.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: GTF2H5.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GTF2H5 were set to 24986372
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GTF2H5 were changed from Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive to delayed myelination
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GTF2H5 were set to
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GTF2H5 was added gene: GTF2H5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive