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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ARSA |
Ivone Leong Source NHS GMS was added to ARSA. Source London North GLH was added to ARSA. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SACS |
Ellen McDonagh Added phenotypes Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) for gene: SACS Publications for gene SACS were changed from PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) to 12873855 (18 patients from 4 families); 15985586 (two siblings); 14718706 (two sisters); 16606928 (case study); 10655055 (17 families with 24 patients); 14718708 (two family members) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SACS |
Ellen McDonagh gene: SACS was added gene: SACS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSA |
Ellen McDonagh gene: ARSA was added gene: ARSA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSA were set to 27604308; 24816252 Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy |
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