Likely inborn error of metabolism - targeted testing not possible
Gene: ACAD9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Confirmed link to metabolic disease and not likely to be considered in first line metabolic testing and therefore appropriate for this panelCreated: 3 Jan 2017, 11:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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.
Source NHS GMS was added to ACAD9. Source London North GLH was added to ACAD9.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9 Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308
gene: ACAD9 was added gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID:17564966; 21057504 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency