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| Likely inborn error of metabolism - targeted testing not possible v2.193 | CSTB | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.193 | CSTB | Arina Puzriakova Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.96 | CSTB | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.96 | CSTB | Sarah Leigh Phenotypes for gene: CSTB were changed from Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | CSTB |
Ivone Leong Source NHS GMS was added to CSTB. Source London North GLH was added to CSTB. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CSTB |
Ellen McDonagh gene: CSTB was added gene: CSTB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 27604308 Phenotypes for gene: CSTB were set to Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) |
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