| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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. |
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| Stickler syndrome v3.3 | BMP4 | Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| 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. |
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| Stickler syndrome v2.32 | BMP4 | Eleanor Williams commented on gene: BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v2.22 | 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 v2.19 | BMP4 | Ivone Leong Publications for gene: BMP4 were set to 25663169; 30362103 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v2.14 | BMP4 | Ivone Leong Phenotypes for gene: BMP4 were changed from to Stickler syndrome, MONDO:0019354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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