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| Cataract v0.203 | GTF2H5 | Zornitza Stark Marked gene: GTF2H5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.203 | GTF2H5 | Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.203 | GTF2H5 | Zornitza Stark Classified gene: GTF2H5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.203 | GTF2H5 | Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | GTF2H5 | Ain Roesley edited their review of gene: GTF2H5: Changed publications: 15220921, 24986372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | GTF2H5 |
Ain Roesley 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 Added comment: 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: Literature |
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