Cataract
Gene: GTF2H5EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 14 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 24986372;
A 5‐year‐old male, born as a collodion baby from healthy non‐consanguineous parents, exhibited sun sensitivity, brittle hair, ichthyosis, cataracts and mental/physical retardation. He demonstrated neither neurological abnormalities nor pigmentary changes following sun exposure. Homozygous for a nonsense variant.
PMID: 15220921;
2 out of 4 patients have cataracts. The 2 patients without cataracts are siblings. (2x homs for PTVs, 1x chet for PTV and missense)
Sources: LiteratureCreated: 8 Jul 2020, 6:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 3, photosensitive (MIM# 616395)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Trichothiodystrophy 3, photosensitive (MIM# 616395)
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Leukodystrophy - paediatric
- Hair disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Ichthyosis
- Photosensitivity Syndromes
- BabyScreen+ newborn screening
- Cataract
- Intellectual disability syndromic and non-syndromic
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gtf2h5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gtf2h5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: GTF2H5 was added gene: GTF2H5 was added to Cataract. Sources: Literature Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 15220921,24986372 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive (MIM# 616395) Penetrance for gene: GTF2H5 were set to unknown Review for gene: GTF2H5 was set to GREEN