Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in five unrelated cases.
Created: 14 Apr 2021, 2:49 p.m. | Last Modified: 14 Apr 2021, 2:49 p.m.
Panel Version: 2.104
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Apr 2021, 2:47 p.m. | Last Modified: 14 Apr 2021, 2:47 p.m.
Panel Version: 2.104

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is a reported feature of this mitochondrial disorder.
Sources: Expert list
Created: 12 Sep 2020, 3:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
Tags
Q2_21_rating
OMIM
605654
Clinvar variants
Variants in FBXL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FBXL4.

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

14 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FBXL4 was added gene: FBXL4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 28383868 Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Review for gene: FBXL4 was set to GREEN