| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible 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 - targeted testing not possible 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||