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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 |