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| Likely inborn error of metabolism - targeted testing not possible v1.240 | PITRM1 | Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.240 | PITRM1 | Sarah Leigh Added comment: Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.240 | PITRM1 | Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | PITRM1 |
Sarah Leigh Source Expert Review Green was added to PITRM1. Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1 Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PITRM1 |
Ellen McDonagh gene: PITRM1 was added gene: PITRM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to PMID: 26697887 Phenotypes for gene: PITRM1 were set to mental retardation, spinocerebellar ataxia, cognitive decline and psychosis |
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