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Childhood onset dystonia or 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 8 panels

1 review

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

Green List (high evidence)

Details

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

History Filter Activity

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FBXO7 were changed from juvenile parkinsonism; Dystonia to Parkinson disease 15, autosomal recessive, 260300; juvenile parkinsonism; Dystonia

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to FBXO7. Mode of inheritance for gene FBXO7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes juvenile parkinsonism; Dystonia for gene: FBXO7

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: FBXO7 was added gene: FBXO7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FBXO7 was set to