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Stickler syndrome v4.8 LOXL3 Ida Ertmanska Classified gene: LOXL3 as Amber List (moderate evidence)
Stickler syndrome v4.8 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: high myopia (consistent finding), retinal disease (3 families), cleft palate (2 unrelated families), hearing loss (2 unrelated families), skeletal dysplasia (2 families). Another 9 patients reported in PMID: 36917121 had isolated high myopia (predominantly LOF variants). A mouse model with a knock in missense variant in LOXL3 recapitulated Stickler syndrome features. Hence, this gene should be promoted to Green at the next update.
Stickler syndrome v4.8 LOXL3 Ida Ertmanska Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v4.7 LOXL3 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 11th May 2026.
Stickler syndrome v4.7 LOXL3 Ida Ertmanska Phenotypes for gene: LOXL3 were changed from Stickler syndrome, MONDO:0019354 to Myopia 28, autosomal recessive, OMIM:619781; Stickler syndrome, MONDO:0019354
Stickler syndrome v4.6 LOXL3 Ida Ertmanska Publications for gene: LOXL3 were set to 25663169; 30362103
Stickler syndrome v4.5 LOXL3 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: LOXL3.
Stickler syndrome v4.5 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
Stickler syndrome v2.22 BMP4 Ivone Leong Added comment: Comment on publications: Added publication and removed PMID: 25663169; 30362103, which were for LOXL3 and not BMP4
Stickler syndrome v2.20 LOXL3 Ivone Leong Publications for gene: LOXL3 were set to 25663169
Stickler syndrome v2.15 LOXL3 Ivone Leong Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354
Stickler syndrome v1.28 LOXL3 Anna de Burca Classified gene: LOXL3 as Amber List (moderate evidence)
Stickler syndrome v1.28 LOXL3 Anna de Burca Gene: loxl3 has been classified as Amber List (Moderate Evidence).