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Likely inborn error of metabolism v1.47 MARS2 Ivone Leong Source NHS GMS was added to MARS2.
Source London North GLH was added to MARS2.
Likely inborn error of metabolism v0.4 MARS2 Ellen McDonagh Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2
Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308
Likely inborn error of metabolism v0.4 MARS2 Ellen McDonagh gene: MARS2 was added
gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 25754315; PMID: 22448145
Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25