Activity
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4 actions
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| Likely inborn error of metabolism v1.76 | HARS2 |
Sarah Leigh Source Expert Review Green was added to HARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2 Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.47 | HARS2 |
Ivone Leong Source NHS GMS was added to HARS2. Source London North GLH was added to HARS2. |
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| Likely inborn error of metabolism v0.4 | HARS2 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | HARS2 |
Ellen McDonagh gene: HARS2 was added gene: HARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS2 were set to 27604308 Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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