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| Likely inborn error of metabolism - targeted testing not possible v2.93 | SAMHD1 | Eleanor Williams Source: Expert Review Red was removed from gene: SAMHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | SAMHD1 |
Ivone Leong Source NHS GMS was added to SAMHD1. Source London North GLH was added to SAMHD1. |
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| Likely inborn error of metabolism - targeted testing not possible v1.40 | SAMHD1 | Rebecca Foulger Phenotypes for gene: SAMHD1 were changed from (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) to (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5); Aicardi-Goutieres syndrome 5, 612952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SAMHD1 |
Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1 Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SAMHD1 |
Ellen McDonagh gene: SAMHD1 was added gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 27604308 Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) |
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