Bilateral congenital or childhood onset cataracts
Gene: GTF2H5
GTF2H5 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (code: 77, version 1.8). There are 3 unrelated cases (PMID: 24986372; 15220921) of patients with Trichothiodystrophy 3, photosensitive who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: GTF2H5; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31
Publications
gene: GTF2H5 was added gene: GTF2H5 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 24986372; 15220921 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395