White matter disorders and cerebral calcification - narrow panel
Gene: GTF2H5
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
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
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
Tag Q2_21_rating was removed from gene: GTF2H5. Tag Q2_21_expert_review was removed from gene: GTF2H5.
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)
Tag Q2_21_expert_review tag was added to gene: GTF2H5.
Tag Q2_21_rating tag was added to gene: GTF2H5.
Publications for gene: GTF2H5 were set to 24986372
Phenotypes for gene: GTF2H5 were changed from Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive to delayed myelination
Publications for gene: GTF2H5 were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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