Mitochondrial disorders
Gene: APOPT1Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8Created: 7 May 2019, 1:40 p.m.
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 26 Feb 2016, 12:15 p.m.
Comment on list classification: Green review and confirmed DD gene.Created: 26 Feb 2016, 12:15 p.m.
Phenotypes for gene: APOPT1 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061; Isolated complex IV deficiency
Tag new-gene-name tag was added to gene: APOPT1.
Victorian Clinical Genetics Services was added to APOPT1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for APOPT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
APOPT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
APOPT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen