| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Glaucoma (developmental) v1.35 | OCRL | Eleanor Williams Publications for gene: OCRL were set to 19168822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.34 | OCRL | Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.19 | OCRL | Ivone Leong Classified gene: OCRL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.19 | OCRL | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association, therefore this gene has been promoted to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.19 | OCRL | Ivone Leong Gene: ocrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.18 | OCRL | Ivone Leong Phenotypes for gene: OCRL were changed from Lowe syndrome, MIM# 309000 to Lowe syndrome, OMIM:309000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.17 | OCRL | Ivone Leong Publications for gene: OCRL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glaucoma (developmental) v1.8 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000 Review for gene: OCRL was set to GREEN gene: OCRL was marked as current diagnostic Added comment: Glaucoma present in ~50%, GeneReviews. Sources: Expert list |
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