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Stickler syndrome v2.16 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.15 LOXL3 Ivone Leong Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.14 BMP4 Ivone Leong Phenotypes for gene: BMP4 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.13 GZF1 Ivone Leong Phenotypes for gene: GZF1 were changed from Larsen syndrome to Larsen syndrome, MONDO:0007875
Stickler syndrome v2.12 COL9A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia
Stickler syndrome v2.12 COL9A3 Ivone Leong Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.11 COL9A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 2, 600204;{Intervertebral disc disease, susceptibility to}, 603932;Stickler syndrome, type V, 614284
Stickler syndrome v2.11 COL9A2 Ivone Leong Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to ?Stickler syndrome, type V, OMIM:614284
Stickler syndrome v2.10 COL9A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 6, 614135;Stickler syndrome, type IV, 614134;Stickler Syndrome, Recessive
Stickler syndrome v2.10 COL9A1 Ivone Leong Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135; Stickler syndrome, type IV, 614134; Stickler Syndrome, Recessive to Stickler syndrome, type IV, OMIM:614134
Stickler syndrome v2.9 COL2A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Stickler syndrome v2.9 COL2A1 Ivone Leong Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300
Stickler syndrome v2.8 COL2A1 Ivone Leong Publications for gene: COL2A1 were set to PMID: 16752401; 20513134
Stickler syndrome v2.7 COL11A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524
Stickler syndrome v2.7 COL11A2 Ivone Leong Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
Stickler syndrome v2.6 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Stickler syndrome v2.5 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841
Stickler syndrome v2.4 COL11A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520
Stickler syndrome v2.4 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841
Stickler syndrome v2.3 Sarah Leigh Panel version has been signed off
Stickler syndrome v2.0 Ivone Leong promoted panel to version 2.0
Stickler syndrome v1.33 Ivone Leong List of related panels changed from to R45
Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Stickler syndrome v1.32 LRP2 Anna de Burca Classified gene: LRP2 as Amber List (moderate evidence)
Stickler syndrome v1.32 LRP2 Anna de Burca Gene: lrp2 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v1.31 LRP2 Anna de Burca gene: LRP2 was added
gene: LRP2 was added to Stickler syndrome. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP2 were set to 23992033
Review for gene: LRP2 was set to AMBER
Added comment: Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert list
Stickler syndrome v1.30 BMP4 Anna de Burca Classified gene: BMP4 as Amber List (moderate evidence)
Stickler syndrome v1.30 BMP4 Anna de Burca Gene: bmp4 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v1.29 BMP4 Anna de Burca gene: BMP4 was added
gene: BMP4 was added to Stickler syndrome. Sources: Expert list
Mode of inheritance for gene: BMP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP4 were set to 25663169; 30362103
Review for gene: BMP4 was set to AMBER
Added comment: Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert list
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).
Stickler syndrome v1.27 COL9A3 Anna de Burca Classified gene: COL9A3 as Green List (high evidence)
Stickler syndrome v1.27 COL9A3 Anna de Burca Gene: col9a3 has been classified as Green List (High Evidence).
Stickler syndrome v1.26 COL9A3 Ivone Leong Publications for gene: COL9A3 were set to 24273071 and unpublished observation
Stickler syndrome v1.25 COL9A3 Anna de Burca reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30450842; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stickler syndrome v1.24 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Stickler syndrome GZF1 Sarah Leigh classified GZF1 as green
Stickler syndrome GZF1 Sarah Leigh added GZF1 to panel
Stickler syndrome GZF1 Sarah Leigh reviewed GZF1