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| Skeletal dysplasia v1.153 | CEP120 |
Eleanor Williams Added phenotypes Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300 for gene: CEP120 Publications for gene CEP120 were changed from 27208211; 27208211 to 27208211 |
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| Skeletal dysplasia v1.151 | CEP120 | Tracy Lester edited their review of gene: CEP120: Added comment: There are enough cases with specific skeletal phenotype (short rib thoracic dysplasia +/- polydactyly) to call green; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | CEP120 | Tracy Lester reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: 27208211, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly 616300, Joubert syndrome 213300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | CEP120 | Eleanor Williams reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | CEP120 |
Eleanor Williams Source NHS GMS was added to CEP120. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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