Likely inborn error of metabolism - targeted testing not possible
Gene: FBXL4Comment on phenotypes: fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.;Disorders of mitochondrial DNA maintenance and integrityCreated: 14 Apr 2021, 2:47 p.m. | Last Modified: 14 Apr 2021, 2:47 p.m.
Panel Version: 2.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 10 Feb 2016, 12:23 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green. Confirmed DD gene for fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.Created: 10 Feb 2016, 12:19 p.m.
Phenotypes for gene: FBXL4 were changed from fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
gene: FBXL4 was added gene: FBXL4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471