1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. FBXO7
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: FBXO7

Green List (high evidence)
FBXO7 (F-box protein 7)
EnsemblGeneIds (GRCh38): ENSG00000100225
EnsemblGeneIds (GRCh37): ENSG00000100225
OMIM: 605648, Gene2Phenotype
FBXO7 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease 15, autosomal recessive, OMIM:260300
OMIM
605648
Clinvar variants
Variants in FBXO7
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease; juvenile parkinsonism; Dystonia; parkinsonian-pyramidal syndrome to Parkinson disease 15, autosomal recessive, OMIM:260300

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FBXO7.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to FBXO7.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FBXO7 was added gene: FBXO7 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease; juvenile parkinsonism; Dystonia; parkinsonian-pyramidal syndrome