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Stickler syndrome v4.4 LRP2 Arina Puzriakova Classified gene: LRP2 as Red List (low evidence)
Stickler syndrome v4.4 LRP2 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.

Only a single family reported with features overlapping those of Stickler syndrome (PMID:23992033), mainly based on their ocular phenotype, including high myopia, vitreous changes, cataract and esotropia. LRP2 variants are typically associated with Donnai-Barrow syndrome and facio-oculo-acoustico-renal syndrome which are not relevant to this panel.
Stickler syndrome v4.4 LRP2 Arina Puzriakova Gene: lrp2 has been classified as Red List (Low Evidence).
Stickler syndrome v4.1 LRP2 Dmitrijs Rots reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Stickler syndrome v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2023-03-22
Stickler syndrome v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Stickler syndrome v3.3 VCAN Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: VCAN.
Tag Q3_22_NHS_review was removed from gene: VCAN.
Tag Q3_22_expert_review was removed from gene: VCAN.
Stickler syndrome v3.3 BMP4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: BMP4.
Tag Q3_22_NHS_review was removed from gene: BMP4.
Stickler syndrome v3.3 VCAN Achchuthan Shanmugasundram reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Stickler syndrome v3.3 BMP4 Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Stickler syndrome v3.2 VCAN Achchuthan Shanmugasundram Source Expert Review Green was added to VCAN.
Source NHS GMS was added to VCAN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Stickler syndrome v3.2 BMP4 Achchuthan Shanmugasundram Source Expert Review Green was added to BMP4.
Source NHS GMS was added to BMP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Stickler syndrome v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30
Stickler syndrome v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Stickler syndrome v2.35 BMP4 Eleanor Williams changed review comment from: Comment on list classification: Although there is not 3 cases reported of patients with Stickler syndrome and variants in this gene, there is evidence of association with an eye phenotype. This gene has been reviewed as green by an Stickler syndrome expert.; to: Comment on list classification: Although there is not 3 cases reported of patients with Stickler syndrome and variants in this gene, there is evidence of association with an eye phenotype. This gene has been reviewed as green by an Stickler syndrome expert. Therefore it is recommended for a green rating following GMS review.
Stickler syndrome v2.35 BMP4 Eleanor Williams Classified gene: BMP4 as Amber List (moderate evidence)
Stickler syndrome v2.35 BMP4 Eleanor Williams Added comment: Comment on list classification: Although there is not 3 cases reported of patients with Stickler syndrome and variants in this gene, there is evidence of association with an eye phenotype. This gene has been reviewed as green by an Stickler syndrome expert.
Stickler syndrome v2.35 BMP4 Eleanor Williams Gene: bmp4 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v2.34 BMP4 Eleanor Williams Publications for gene: BMP4 were set to 30568244
Stickler syndrome v2.33 BMP4 Eleanor Williams Mode of inheritance for gene: BMP4 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Stickler syndrome v2.32 BMP4 Eleanor Williams Tag Q3_22_rating tag was added to gene: BMP4.
Tag Q3_22_NHS_review tag was added to gene: BMP4.
Stickler syndrome v2.32 BMP4 Eleanor Williams commented on gene: BMP4
Stickler syndrome v2.32 VCAN Eleanor Williams Mode of inheritance for gene: VCAN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Stickler syndrome v2.31 VCAN Eleanor Williams Classified gene: VCAN as Amber List (moderate evidence)
Stickler syndrome v2.31 VCAN Eleanor Williams Added comment: Comment on list classification: Promoted from grey to amber, with a recommendation for green rating following GMS expert review to decide whether this gene is appropriate for the panel.
Stickler syndrome v2.31 VCAN Eleanor Williams Gene: vcan has been classified as Amber List (Moderate Evidence).
Stickler syndrome v2.30 VCAN Eleanor Williams Tag Q3_22_rating tag was added to gene: VCAN.
Tag Q3_22_NHS_review tag was added to gene: VCAN.
Tag Q3_22_expert_review tag was added to gene: VCAN.
Stickler syndrome v2.30 VCAN Eleanor Williams Phenotypes for gene: VCAN were changed from Ocular-only Stickler syndrome; Wagner syndrome to Ocular-only Stickler syndrome; Wagner syndrome 1, OMIM:143200
Stickler syndrome v2.29 VCAN Eleanor Williams Publications for gene: VCAN were set to Snead M, Richards A. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol. 2002 Sep; 134(3):473; author reply 473-4. doi: 10.1016/s0002-9394(02)01635-5. PMID: 12208278.
Stickler syndrome v2.28 VCAN Eleanor Williams Added comment: Comment on mode of pathogenicity: Disease associated variants all affect splicing.
Stickler syndrome v2.28 VCAN Eleanor Williams Mode of pathogenicity for gene: VCAN was changed from None to Other
Stickler syndrome v2.27 VCAN Eleanor Williams commented on gene: VCAN
Stickler syndrome v2.27 BMP4 martin snead reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35979589, 30568244, 35022715, 34926457; Phenotypes: AD Stickler syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler syndrome v2.27 VCAN martin snead reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12208278, 10729292, 11812423; Phenotypes: Ocular-only Stickler syndrome, Wagner syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler syndrome v2.27 VCAN martin snead Deleted their review
Stickler syndrome v2.27 VCAN martin snead gene: VCAN was added
gene: VCAN was added to Stickler syndrome. Sources: Expert Review
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCAN were set to Snead M, Richards A. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol. 2002 Sep; 134(3):473; author reply 473-4. doi: 10.1016/s0002-9394(02)01635-5. PMID: 12208278.
Phenotypes for gene: VCAN were set to Ocular-only Stickler syndrome; Wagner syndrome
Penetrance for gene: VCAN were set to Complete
Review for gene: VCAN was set to GREEN
Added comment: VCAN needs to be added to the Stickler panel because Ocular-only Stickler syndrome is frequently mis-diagnosed as Wagner syndrome and vice versa. Although the 2 conditions are distinguishable by vitreous phenotyping, this may not be feasible in children or any patient who has undergone previous vitrectomy surgery.
Sources: Expert Review
Stickler syndrome v2.27 COL11A2 Arina Puzriakova commented on gene: COL11A2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Stickler syndrome v2.26 COL11A2 Arina Puzriakova commented on gene: COL11A2
Stickler syndrome v2.25 COL11A2 Arina Puzriakova Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stickler syndrome v2.24 COL11A2 Arina Puzriakova Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150
Stickler syndrome v2.23 COL9A2 Arina Puzriakova Phenotypes for gene: COL9A2 were changed from ?Stickler syndrome, type V, OMIM:614284 to Stickler syndrome, type V, OMIM:614284
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 v2.22 BMP4 Ivone Leong Publications for gene: BMP4 were set to 30568244
Stickler syndrome v2.21 BMP4 Ivone Leong Publications for gene: BMP4 were set to 25663169; 30362103; 30568244
Stickler syndrome v2.20 LOXL3 Ivone Leong Publications for gene: LOXL3 were set to 25663169
Stickler syndrome v2.19 BMP4 Ivone Leong Publications for gene: BMP4 were set to 25663169; 30362103
Stickler syndrome v2.18 COL9A3 Ivone Leong changed review comment from: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available.; to: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 variant associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available.
Stickler syndrome v2.18 COL9A3 Ivone Leong changed review comment from: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with Stickler syndrome, the MOI will be kept as "Biallelic" until more evidence is available.; to: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with peripheral vitreoretinal degeneration and retinal detachment, the MOI will be kept as "Biallelic" until more evidence is available.
Stickler syndrome v2.18 COL9A3 Ivone Leong Added comment: Comment on mode of inheritance: As there are currently only 2 unrelated cases of autosomal dominant COL9A3 associated with Stickler syndrome, the MOI will be kept as "Biallelic" until more evidence is available.
Stickler syndrome v2.18 COL9A3 Ivone Leong Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Stickler syndrome v2.17 COL9A3 Ivone Leong Publications for gene: COL9A3 were set to 24273071 and unpublished observation; 30450842
Stickler syndrome v2.16 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Stickler syndrome, AR, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stickler syndrome v2.16 BMP4 Dmitrijs Rots reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30568244; Phenotypes: Microphthalmia, Micrognathia, Retrognathia, Midface hypoplasia, Cleft palate, hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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