Mitochondrial disorders
Gene: FBXL4Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471;fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.Created: 14 Apr 2021, 2:45 p.m. | Last Modified: 14 Apr 2021, 2:45 p.m.
Panel Version: 2.23
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 Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle. to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Victorian Clinical Genetics Services was added to FBXL4. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for FBXL4 were set to Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
Mode of inheritance for FBXL4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FBXL4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
FBXL4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
FBXL4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen