Activity
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6 actions
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| Likely inborn error of metabolism v1.188 | MTPAP | Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.188 | MTPAP | Sarah Leigh Phenotypes for gene: MTPAP were changed from ?Spastic ataxia 4, autosomal recessive 613672; Ataxia, spastic, 4, 613672; ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) to ?Spastic ataxia 4, autosomal recessive 613672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.76 | MTPAP |
Sarah Leigh Source Expert Review Green was added to MTPAP. Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v1.47 | MTPAP |
Ivone Leong Source NHS GMS was added to MTPAP. Source London North GLH was added to MTPAP. |
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| Likely inborn error of metabolism v0.4 | MTPAP | Ellen McDonagh Added phenotypes Ataxia, spastic, 4, 613672 for gene: MTPAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MTPAP |
Ellen McDonagh gene: MTPAP was added gene: MTPAP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 27604308 Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) |
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