Mitochondrial disorders
Gene: FBXL4EnsemblGeneIds (GRCh38): ENSG00000112234
EnsemblGeneIds (GRCh37): ENSG00000112234
OMIM: 605654, Gene2Phenotype
FBXL4 is in 13 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
- mitochondrial DNA depletion syndrome 13 MONDO:0014198
- OMIM
- 605654
- Clinvar variants
- Variants in FBXL4
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Mitochondrial DNA maintenance disorder
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to FBXL4. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FBXL4 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FBXL4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FBXL4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FBXL4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen