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Skeletal dysplasia v9.13 LOXL3 Ida Ertmanska edited their review of gene: LOXL3: Changed rating: AMBER
Skeletal dysplasia v9.7 LOXL3 Ida Ertmanska Classified gene: LOXL3 as Amber List (moderate evidence)
Skeletal dysplasia v9.7 LOXL3 Ida Ertmanska Added comment: Comment on list classification: There are now 8 individuals from 4 unrelated families with biallelic LOXL3 variants and variable clinical features consistent with Stickler syndrome. Skeletal findings included mild spondylo-epi-metaphyseal dysplasia in 1 case, and shortening of metacarpals and metatarsals in 3 sisters. A mouse model with a knock in missense variant in LOXL3 recapitulated Stickler syndrome features, including skeletal dysplasia. As the skeletal findings are relatively mild, this gene should remain Amber on Skeletal dysplasia.
Skeletal dysplasia v9.7 LOXL3 Ida Ertmanska Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v9.6 LOXL3 Ida Ertmanska Publications for gene: LOXL3 were set to 25663169
Skeletal dysplasia v9.5 LOXL3 Ida Ertmanska Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Myopia 28, autosomal recessive, OMIM:619781; Stickler syndrome, MONDO:0019354
Skeletal dysplasia v9.4 LOXL3 Ida Ertmanska reviewed gene: LOXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25663169, 30362103, 36610533, 36917121, 38957076, 41052910; Phenotypes: Myopia 28, autosomal recessive, OMIM:619781, Stickler syndrome, MONDO:0019354; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia LOXL3 Sarah Leigh marked LOXL3 as ready
Skeletal dysplasia LOXL3 Sarah Leigh commented on LOXL3