Adult onset neurodegenerative disorder
Gene: FBXO7

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Parkinson disease-15 (PARK15), also known as the parkinsonian-pyramidal syndrome, The illness began in the second or early third decade. >3 families, green
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.

Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson Disease, Recessive; Dystonia; juvenile parkinsonism; parkinsonian-pyramidal syndrome; Parkinson disease 15, autosomal recessive, 260300; Early Onset Complex Disease

Created: 2 Sep 2019, 4:06 p.m.
Last Modified: 2 Sep 2019, 4:06 p.m.
Panel version: 1.99

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset in adolescence or young adulthood.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.

Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson Disease, Recessive; Dystonia; juvenile parkinsonism; parkinsonian-pyramidal syndrome; Parkinson disease 15, autosomal recessive, 260300; Early Onset Complex Disease

Publications

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

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.

Panel Version: 1.101

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating submitted byJames 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, 5:35 p.m.

Created: 23 Apr 2019, 5:35 p.m.

Panel version: 1.101

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

Green List (high evidence)

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

Created: 23 Apr 2019, 5:31 p.m.

Panel version: 1.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green

Phenotypes

Dystonia
Parkinson disease 15, autosomal recessive, OMIM:260300

OMIM

605648

Clinvar variants

Variants in FBXO7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

2 Sep 2019, Gel status: 3