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Undiagnosed metabolic disorders v1.203 MTPAP Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Undiagnosed metabolic disorders v1.203 MTPAP Sarah Leigh Phenotypes for gene: MTPAP were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); ?Spastic ataxia 4, autosomal recessive, 613672 to ?Spastic ataxia 4, autosomal recessive, 613672
Undiagnosed metabolic disorders v1.202 MTPAP Sarah Leigh Publications for gene: MTPAP were set to 27604308
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Classified gene: MTPAP as Green List (high evidence)
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases, and supportive functional studies.
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Gene: mtpap has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders MTPAP Louise Daugherty reviewed MTPAP
Undiagnosed metabolic disorders MTPAP Louise Daugherty commented on MTPAP