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  3. FBXL4
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Ataxia - paediatric

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 9 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

In a review of 87 individuals from 72 families, age of presentation varies from neonate-13y
Created: 13 Dec 2021, 4:43 a.m. | Last Modified: 13 Dec 2021, 4:43 a.m.
Panel Version: 0.10207

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Dec 2021, 4:43 a.m.
Last Modified: 13 Dec 2021, 4:43 a.m.
Panel version: Imported from Mendeliome panel version 0.10207

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is a reported feature of this mitochondrial disorder.
Created: 12 Sep 2020, 3:52 a.m. | Last Modified: 12 Sep 2020, 3:52 a.m.
Panel Version: 0.233

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Sep 2020, 3:52 a.m.
Last Modified: 12 Sep 2020, 3:52 a.m.
Panel version: 0.233

Details

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

History Filter Activity

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxl4 has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBXL4 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FBXL4 was added gene: FBXL4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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)