Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | GTF2H5 | Ivone Leong edited their review of gene: GTF2H5: Added comment: 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.; Changed publications: 24986372, 15220921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | GTF2H5 | Ivone Leong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | GTF2H5 |
Ivone Leong 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||