19 Aug 2019
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)
19 Aug 2019
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
19 Aug 2019
Undiagnosed metabolic disorders v1.202
MTPAP
Sarah Leigh Publications for gene: MTPAP were set to 27604308
19 Aug 2019
Undiagnosed metabolic disorders v1.201
MTPAP
Sarah Leigh Classified gene: MTPAP as Green List (high evidence)
19 Aug 2019
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.
19 Aug 2019
Undiagnosed metabolic disorders v1.201
MTPAP
Sarah Leigh Gene: mtpap has been classified as Green List (High Evidence).
23 Feb 2017
Undiagnosed metabolic disorders
MTPAP
Louise Daugherty reviewed MTPAP
15 Feb 2017
Undiagnosed metabolic disorders
MTPAP
Louise Daugherty commented on MTPAP