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| Skeletal dysplasia v1.153 | PDE3A | Eleanor Williams Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | PDE3A | Tracy Lester reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25961942, 9696728; Phenotypes: Hypertension and brachydactyly syndrome, 112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | PDE3A | Eleanor Williams reviewed gene: PDE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | PDE3A |
Eleanor Williams Source NHS GMS was added to PDE3A. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Skeletal dysplasia v1.126 | PDE3A | Louise Daugherty Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome 112410 to Hypertension and brachydactyly syndrome, 112410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.125 | PDE3A | Louise Daugherty Publications for gene: PDE3A were set to PMID: 25961942; 9696728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.110 | PDE3A | Sarah Leigh Publications for gene: PDE3A were set to PMID: 25961942; 9696728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.110 | PDE3A | Sarah Leigh Classified gene: PDE3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.110 | PDE3A | Sarah Leigh Gene: pde3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.107 | PDE3A |
Rachel Jones gene: PDE3A was added gene: PDE3A was added to Unexplained skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to PMID: 25961942; 9696728 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome 112410 Penetrance for gene: PDE3A were set to Complete Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PDE3A was set to GREEN Added comment: Mutations appear to be gain of function missense as per PMID 25961942*. 6 missense variants identified in unrelated families with dominant hypertension with brachydactyly (HTNB) *Article link https://www.nature.com/articles/ng.3302 The article PMID: 9696728 gives more information about the clinical phenotype - their Canadian and American families showed linkage to an area of chromosome 12p containing PDE3A, as had a previous Turkish family. http://annals.org/aim/fullarticle/711593/families-autosomal-dominant-brachydactyly-type-e-short-stature-severe-hypertension. Sources: Literature |
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