Activity
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11 actions
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| Skeletal dysplasia v7.23 | BGN |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BGN. Tag Q3_24_NHS_review was removed from gene: BGN. |
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| Skeletal dysplasia v7.23 | BGN | Achchuthan Shanmugasundram commented on gene: BGN: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.22 | BGN |
Achchuthan Shanmugasundram Source Expert Review Green was added to BGN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v6.25 | BGN | Achchuthan Shanmugasundram Classified gene: BGN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.25 | BGN | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.25 | BGN | Achchuthan Shanmugasundram Gene: bgn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.24 | BGN | Achchuthan Shanmugasundram Phenotypes for gene: BGN were changed from Skeletal dysplasia; Spondyloepimetaphyseal dysplasia to Spondyloepimetaphyseal dysplasia, X-linked, OMIM:300106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.24 | BGN | Achchuthan Shanmugasundram Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.23 | BGN |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BGN. Tag Q3_24_NHS_review tag was added to gene: BGN. |
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| Skeletal dysplasia v6.23 | BGN | Achchuthan Shanmugasundram reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236923; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, OMIM:300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.23 | BGN |
Tracy Lester gene: BGN was added gene: BGN was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BGN were set to 27236923 Phenotypes for gene: BGN were set to Skeletal dysplasia; Spondyloepimetaphyseal dysplasia Penetrance for gene: BGN were set to unknown Review for gene: BGN was set to GREEN Added comment: Cho et al report on finding missense variants in 3 families with SEMD segregating in an XLR pattern. 'Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-β) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-β. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define “XLR SEMD, BGN type” as a nosologic entity.' Sources: NHS GMS |
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