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Likely inborn error of metabolism - targeted testing not possible v2.205 | HEXB | Arina Puzriakova Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | HEXB |
Ivone Leong Source NHS GMS was added to HEXB. Source London North GLH was added to HEXB. |
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Likely inborn error of metabolism - targeted testing not possible v1.3 | HEXB | Louise Daugherty Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, 268800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | HEXB |
Ellen McDonagh gene: HEXB was added gene: HEXB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 27604308 Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms |