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| Mendeliome v1.3469 | LOXL3 | Zornitza Stark Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354, LOXL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3468 | LOXL3 | Zornitza Stark Publications for gene: LOXL3 were set to 30362103; 25663169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3467 | LOXL3 | Zornitza Stark Classified gene: LOXL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3467 | LOXL3 | Zornitza Stark Gene: loxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3466 | LOXL3 | Zornitza Stark changed review comment from: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease.; to: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease. Zebrafish model also available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3466 | 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.; Changed rating: GREEN; Changed publications: 30362103, 25663169, 41052910; Changed phenotypes: Stickler syndrome, MONDO:0019354, LOXL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5800 | LOXL3 | Zornitza Stark Marked gene: LOXL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5800 | LOXL3 | Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5800 | LOXL3 | Zornitza Stark Classified gene: LOXL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5800 | LOXL3 | Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5799 | LOXL3 |
Zornitza Stark gene: LOXL3 was added gene: LOXL3 was added to Mendeliome. Sources: Expert Review 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 Review for gene: LOXL3 was set to AMBER Added comment: Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association. Sources: Expert Review |
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