Mitochondrial disorders
Gene: MTPAPComment on mode of inheritance: Confirmed in OMIMCreated: 2 Aug 2019, 9:33 a.m. | Last Modified: 2 Aug 2019, 9:33 a.m.
Panel Version: 1.421
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.Created: 11 Jul 2019, 9:28 a.m. | Last Modified: 11 Jul 2019, 9:28 a.m.
Panel Version: 1.405
Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4, 613672 to ?Spastic ataxia 4, autosomal recessive 613672
Gene: mtpap has been classified as Green List (High Evidence).
Publications for gene: MTPAP were set to 20970105; 25008111; 26319014
Publications for gene: MTPAP were set to 20970105; 25008111
Publications for gene: MTPAP were set to
Victorian Clinical Genetics Services was added to MTPAP. Panel: Mitochondrial disorders
MTPAP was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
MTPAP was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen