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  3. FBXL4
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Dystonia - complex

Gene: FBXL4

Amber List (moderate evidence)
FBXL4 (F-box and leucine rich repeat protein 4)
EnsemblGeneIds (GRCh38): ENSG00000112234
EnsemblGeneIds (GRCh37): ENSG00000112234
OMIM: 605654, Gene2Phenotype
FBXL4 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Dystonia is a feature of the phenotype in three out of nine cases with biallelic variants.
Sources: Expert list
Created: 5 Apr 2020, 6:48 a.m. | Last Modified: 5 Apr 2020, 6:55 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471

Created: 5 Apr 2020, 6:48 a.m.
Last Modified: 5 Apr 2020, 6:55 a.m.
Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
OMIM
605654
Clinvar variants
Variants in FBXL4
Penetrance
None
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fbxl4 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fbxl4 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FBXL4 was added gene: FBXL4 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Review for gene: FBXL4 was set to RED