Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | EGFLAM | Ida Ertmanska Phenotypes for gene: EGFLAM were changed from Congenital Stationary Night Blindness to Congenital stationary night blindness, HP:0007642 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.77 | EGFLAM | Ida Ertmanska Publications for gene: EGFLAM were set to PMID: 41343198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.76 | EGFLAM | Ida Ertmanska Classified gene: EGFLAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.76 | EGFLAM | Ida Ertmanska Gene: egflam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | EGFLAM |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: EGFLAM. Tag Q4_25_NHS_review tag was added to gene: EGFLAM. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | EGFLAM | Ida Ertmanska commented on gene: EGFLAM: Comment on list classification: As reviewed by Siying Lin, there are 3 individuals from 2 unrelated families reported with biallelic EGFLAM variants and Congenital stationary night blindness. In addition, a knockout mouse model supports the gene's association with a retinal phenotype. Based on available evidence, this gene should be promoted to Green for Retinal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.75 | EGFLAM | Ida Ertmanska reviewed gene: EGFLAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 18641643, 41343198; Phenotypes: Congenital stationary night blindness, HP:0007642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.74 | EGFLAM |
Siying Lin gene: EGFLAM was added gene: EGFLAM was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFLAM were set to PMID: 41343198 Phenotypes for gene: EGFLAM were set to Congenital Stationary Night Blindness Mode of pathogenicity for gene: EGFLAM was set to Other Review for gene: EGFLAM was set to AMBER Added comment: PMID 41343198 - 3 patients from 2 unrelated families with different homozygous LOF variants and CSNB phenotype Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||