Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: FBXL4

No list

FBXL4 (F-box and leucine rich repeat protein 4)
EnsemblGeneIds (GRCh38): ENSG00000112234
EnsemblGeneIds (GRCh37): ENSG00000112234
OMIM: 605654, Gene2Phenotype
FBXL4 is in 13 panels

1 review

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

History Filter Activity

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