| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.85 | HTRA2 | Zornitza Stark Marked gene: HTRA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.85 | HTRA2 | Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.85 | HTRA2 | Zornitza Stark Classified gene: HTRA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.85 | HTRA2 | Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.60 | HTRA2 |
Lauren Akesson gene: HTRA2 was added gene: HTRA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to PMID: 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248) Penetrance for gene: HTRA2 were set to unknown Review for gene: HTRA2 was set to GREEN Added comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117). Sources: Literature |
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