Activity
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8 actions
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| Likely inborn error of metabolism v2.78 | DARS | Eleanor Williams Source: Expert Review Red was removed from gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.262 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.262 | DARS | Louise Daugherty commented on gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | DARS2 |
Ivone Leong Source NHS GMS was added to DARS2. Source London North GLH was added to DARS2. |
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| Likely inborn error of metabolism v0.4 | DARS2 |
Ellen McDonagh Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DARS2 Publications for gene DARS2 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | DARS2 |
Ellen McDonagh gene: DARS2 was added gene: DARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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| Likely inborn error of metabolism v0.4 | DARS | Ellen McDonagh Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity for gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | DARS |
Ellen McDonagh gene: DARS was added gene: DARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity |
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