Ataxia and cerebellar anomalies - narrow panel
Gene: FBXL4
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
Ataxia is a reported feature of this mitochondrial disorder.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: FBXL4.
Source Expert Review Green was added to FBXL4. Source NHS GMS was added to FBXL4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: FBXL4.
Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
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
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