Activity
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12 actions
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| Skeletal dysplasia v8.14 | CTGF | Arina Puzriakova Phenotypes for gene: CTGF were changed from kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.13 | CTGF | Arina Puzriakova Tag watchlist_moi tag was added to gene: CTGF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.8 | CTGF | Achchuthan Shanmugasundram commented on gene: CTGF: The 'new-gene-name' tag was added as the HGNC approved gene name is CCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.8 | CTGF | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CTGF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.8 | CTGF | Achchuthan Shanmugasundram Classified gene: CTGF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.8 | CTGF | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and animal models) in support of the association of biallelic variants with kyphomelic dysplasia. However, there is only one family reported with monoallelic variants. Hence, the MOI was set to 'BIALLELIC, autosomal or pseudoautosomal'. It can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.8 | CTGF | Achchuthan Shanmugasundram Gene: ctgf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.7 | CTGF | Achchuthan Shanmugasundram Phenotypes for gene: CTGF were changed from to kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.6 | CTGF | Achchuthan Shanmugasundram Publications for gene: CTGF were set to 39506047; 12736220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.5 | CTGF | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CTGF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.5 | CTGF | Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 12736220, 39414788, 39506047; Phenotypes: kyphomelic dysplasia, MONDO:0008881, spondyloepimetaphyseal dysplasia, MONDO:0100510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.5 | CTGF |
Cassandra Smith gene: CTGF was added gene: CTGF was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTGF were set to 39506047; 12736220 Review for gene: CTGF was set to GREEN Added comment: New gene name CCN2 39506047: Two consanguineous families with three affected patients with reported kyphomelic dysplasia. Rare missense (Cys148Tyr )and novel frameshift variant (Pro260LeufsTer7). Zebrafish crispants show skeletal changes. 12736220: Knockout mice show a skeletal phenotype Sources: Literature |
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