Pyruvate dehydrogenase (PDH) deficiency

Gene: FBXL4

Green List (high evidence)

FBXL4 (F-box and leucine rich repeat protein 4)
EnsemblGeneIds (GRCh38): ENSG00000112234
EnsemblGeneIds (GRCh37): ENSG00000112234
OMIM: 605654, Gene2Phenotype
FBXL4 is in 12 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: FBXL4; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)

Publications

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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)

Green List (high evidence)

History Filter Activity

1 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FBXL4 was added gene: FBXL4 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 25868664 Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)