Adult onset neurodegenerative disorder
Gene: FBXO7
Parkinson disease-15 (PARK15), also known as the parkinsonian-pyramidal syndrome, The illness began in the second or early third decade. >3 families, greenCreated: 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
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
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.
Variants in this GENE are reported as part of current diagnostic practice
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
Source Wessex and West Midlands GLH was added to FBXO7.
Publications for gene FBXO7 were changed from to 18513678; 19038853
Source Yorkshire and North East GLH was added to FBXO7.
Source NHS GMS was added to FBXO7.
Source London North GLH was added to FBXO7.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; parkinsonian-pyramidal syndrome; Early Onset Complex Disease for gene: FBXO7
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