| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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. |
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| Stickler syndrome v3.3 | VCAN | Achchuthan Shanmugasundram reviewed gene: VCAN: 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) |
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| 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. |
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| 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 | 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 |
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