Mitochondrial liver disease, including transient infantile liver failure
Gene: SCO1Comment when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype.Created: 25 Feb 2019, 4:25 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: SCO1; Suggested intial gene rating: Red. Information provided: Mode of inheritance and phenotypeCreated: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Gene: sco1 has been classified as Red List (Low Evidence).
gene: SCO1 was added gene: SCO1 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110