Structural eye disease
Gene: GTF2H5

GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

cataract gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; 616395

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). cataract gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395

OMIM

608780

Clinvar variants

Variants in GTF2H5

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GTF2H5. Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395 for gene: GTF2H5

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: GTF2H5 was added gene: GTF2H5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GTF2H5 was set to

Structural eye disease Gene: GTF2H5