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| Skeletal dysplasia v4.51 | DYNC2H1 | Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff); Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087 to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | DYNC2H1 |
Eleanor Williams Added phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 for gene: DYNC2H1 Publications for gene DYNC2H1 were changed from to 21211617 |
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| Skeletal dysplasia v1.147 | DYNC2H1 | Tracy Lester reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21211617; Phenotypes: Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | DYNC2H1 | Eleanor Williams reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | DYNC2H1 | Eleanor Williams Source NHS GMS was added to DYNC2H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||