| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.157 | Zornitza Stark removed gene:SMARCA2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | SMARCA2 |
Zornitza Stark gene: SMARCA2 was added gene: SMARCA2 was added to Skeletal dysplasia. Sources: Mode of inheritance for gene: SMARCA2 was set to Phenotypes for gene: SMARCA2 were set to Coffin Siris syndrome |
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| Skeletal dysplasia v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 |
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