| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v5.3 | FBXW11 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: FBXW11. Tag Q4_23_NHS_review was removed from gene: FBXW11. |
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| Skeletal dysplasia v5.3 | FBXW11 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.3 | FBXW11 | Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.2 | FBXW11 |
Achchuthan Shanmugasundram Source NHS GMS was added to FBXW11. Source Expert Review Green was added to FBXW11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v4.38 | FBXW11 |
Achchuthan Shanmugasundram Tag Q4_21_NHS_review was removed from gene: FBXW11. Tag Q4_23_NHS_review tag was added to gene: FBXW11. |
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| Skeletal dysplasia v4.35 | FBXW11 | Sarah Leigh Phenotypes for gene: FBXW11 were changed from Global developmental delay; Intellectual disability; Abnormality of the eye; Abnormality of the head; Abnormality of digit; Neurodevelopmental, jaw, eye, and digital syndrome MIM#618914 to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.34 | FBXW11 |
Sarah Leigh Tag Q4_21_NHS_review tag was added to gene: FBXW11. Tag Q4_23_promote_green tag was added to gene: FBXW11. |
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| Skeletal dysplasia v4.34 | FBXW11 | Sarah Leigh reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.34 | FBXW11 | Sarah Leigh Classified gene: FBXW11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.34 | FBXW11 | Sarah Leigh Gene: fbxw11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.33 | FBXW11 | Sarah Leigh Entity copied from Intellectual disability - microarray and sequencing v5.369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.33 | FBXW11 |
Sarah Leigh gene: FBXW11 was added gene: FBXW11 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to Global developmental delay; Intellectual disability; Abnormality of the eye; Abnormality of the head; Abnormality of digit; Neurodevelopmental, jaw, eye, and digital syndrome MIM#618914 Penetrance for gene: FBXW11 were set to unknown |
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