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Bilateral congenital or childhood onset cataracts

Gene: GTF2H5

Green List (high evidence)

GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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


History Filter Activity

28 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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