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| Skeletal dysplasia v1.153 | CC2D2A |
Eleanor Williams Added phenotypes Meckel syndrome 6 612284 for gene: CC2D2A Publications for gene CC2D2A were changed from 18513680; 24706459; 23351400 to 23351400; 24706459; 18513680 |
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| Skeletal dysplasia v1.147 | CC2D2A | Tracy Lester reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513680, 24706459, 23351400; Phenotypes: Meckel syndrome 6 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | CC2D2A | Eleanor Williams reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | CC2D2A |
Eleanor Williams Source NHS GMS was added to CC2D2A. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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