Genes in panel

Neurodegenerative disorders - adult onset

Gene: FBXO7

Green List (high evidence)

FBXO7 (F-box protein 7)
EnsemblGeneIds (GRCh38): ENSG00000100225
EnsemblGeneIds (GRCh37): ENSG00000100225
OMIM: 605648, Gene2Phenotype
FBXO7 is in 6 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

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

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.

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

Green List (high evidence)

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

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
  • Parkinson Disease, Recessive
  • Dystonia
  • juvenile parkinsonism
  • parkinsonian-pyramidal syndrome
  • Parkinson disease 15, autosomal recessive, 260300
  • Early Onset Complex Disease
OMIM
605648
Clinvar variants
Variants in FBXO7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to FBXO7.

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FBXO7 were changed from to 18513678; 19038853

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to FBXO7.

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.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; parkinsonian-pyramidal syndrome; Early Onset Complex Disease for gene: FBXO7

18 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FBXO7 was added gene: FBXO7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXO7 were set to Dystonia; juvenile parkinsonism