02 Aug 2019
Mitochondrial disorders v1.421
MTPAP
Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
02 Aug 2019
Mitochondrial disorders v1.421
MTPAP
Ellen McDonagh Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
11 Jul 2019
Mitochondrial disorders v1.406
MTPAP
Sarah Leigh Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4, 613672 to ?Spastic ataxia 4, autosomal recessive 613672
11 Jul 2019
Mitochondrial disorders v1.405
MTPAP
Sarah Leigh Classified gene: MTPAP as Green List (high evidence)
11 Jul 2019
Mitochondrial disorders v1.405
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.
11 Jul 2019
Mitochondrial disorders v1.405
MTPAP
Sarah Leigh Gene: mtpap has been classified as Green List (High Evidence).
24 Jun 2019
Mitochondrial disorders v1.400
MTPAP
Sarah Leigh Publications for gene: MTPAP were set to 20970105; 25008111; 26319014
02 May 2019
Mitochondrial disorders v1.259
MTPAP
Ivone Leong Publications for gene: MTPAP were set to 20970105; 25008111
02 May 2019
Mitochondrial disorders v1.258
MTPAP
Ivone Leong Publications for gene: MTPAP were set to