Mitochondrial disorder with complex IV deficiency
Gene: APOPT1Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8Created: 7 May 2019, 1:40 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: APOPT1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
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 Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tag new-gene-name tag was added to gene: APOPT1.
gene: APOPT1 was added gene: APOPT1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110