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| DDG2P v3.29 | BGN | Achchuthan Shanmugasundram Tag watchlist was removed from gene: BGN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.29 | BGN |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686). The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).; to: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686). The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923). |
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| DDG2P v3.12 | BGN | Achchuthan Shanmugasundram reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27632686, 27236923, 34807424; Phenotypes: Severe syndromic form of thoracic aortic aneurysm & dissection, X-Linked Spondyloepimetaphyseal Dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BGN | Achchuthan Shanmugasundram Publications for gene: BGN were updated from 27632686 to 27632686; 27236923; 34807424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | BGN | Rebecca Foulger commented on gene: BGN: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | BGN |
Rebecca Foulger Source Expert Review Green was added to BGN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | BGN | Rebecca Foulger commented on gene: BGN: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | BGN | Rebecca Foulger commented on gene: BGN: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | BGN | Rebecca Foulger Tag watchlist tag was added to gene: BGN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | BGN | Rebecca Foulger commented on gene: BGN: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BGN | Rebecca Foulger reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BGN |
Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN Publications for gene BGN were changed from 27236923 to 27632686 |
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| DDG2P v0.1 | BGN |
Rebecca Foulger gene: BGN was added gene: BGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BGN were set to 27236923 Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia |
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