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  3. FBXO7
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Early onset and familial Parkinson's Disease

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in the NHNN manual.
Created: 10 Jun 2016, 9:29 a.m.
Comment on list classification: Is on the Parkinson's Disease NGS Panel and the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 9:29 a.m.
Created: 10 Jun 2016, 9:28 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
  • Parkinson Disease, Recessive
OMIM
605648
Clinvar variants
Variants in FBXO7
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FBXO7 was changed to BIALLELIC, autosomal or pseudoautosomal

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FBXO7 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FBXO7 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FBXO7 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FBXO7 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FBXO7 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert