Genes in panel

Neurodegenerative disorders - adult onset

Gene: VPS35

Green List (high evidence)

VPS35 (VPS35, retromer complex component)
EnsemblGeneIds (GRCh38): ENSG00000069329
EnsemblGeneIds (GRCh37): ENSG00000069329
OMIM: 601501, Gene2Phenotype
VPS35 is in 4 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder ->3 cases
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Mean age of onset 50 to 52 years
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease 17, 614203
  • Parkinson Disease, Dominant
  • late onset parkinson disease
  • PARKINSON DISEASE 17
  • PARK17
Tags
missense
OMIM
601501
Clinvar variants
Variants in VPS35
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 VPS35.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to VPS35.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VPS35.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to VPS35.

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

Added Tag

Rebecca Foulger (Genomics England curator)

Tag missense tag was added to gene: VPS35.

18 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: VPS35 was added gene: VPS35 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS35 were set to 27777137; 22517097; 23408866; 26547032; 21763482; 22991136; 21763483; 24854799 Phenotypes for gene: VPS35 were set to Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17