| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Stickler Syndrome v1.12 | LOXL3 | Zornitza Stark Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354, LOXL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.11 | LOXL3 | Zornitza Stark Classified gene: LOXL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.11 | LOXL3 | Zornitza Stark Gene: loxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.10 | LOXL3 | Zornitza Stark edited their review of gene: LOXL3: Added comment: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease. Zebrafish model also available.; Changed rating: GREEN; Changed publications: 30362103, 25663169, 41052910; Changed phenotypes: Stickler syndrome, MONDO:0019354, LOXL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.1 | LOXL3 | Zornitza Stark Marked gene: LOXL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.1 | LOXL3 | Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v0.0 | LOXL3 |
Alison Yeung gene: LOXL3 was added gene: LOXL3 was added to Stickler Syndrome. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXL3 were set to 30362103; 25663169 Phenotypes for gene: LOXL3 were set to Stickler syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||