Mitochondrial liver disease, including transient infantile liver failure
Gene: ACAD9
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: ACAD9; Suggested intial gene rating: Red. Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, 611126
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, 4:23 p.m.
Comment on mode of inheritance: Source: G2P and OMIM.Created: 10 Feb 2016, 10:50 a.m.
Comment on list classification: Promoted from red to green due to expert review suggestion. It is also a confirmed DD gene for ACAD9 deficiency.Created: 10 Feb 2016, 10:50 a.m.
Gene: acad9 has been classified as Red List (Low Evidence).
gene: ACAD9 was added gene: ACAD9 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126