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  2. Hereditary ataxia with onset in adulthood
  3. VPS13D
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Hereditary ataxia with onset in adulthood

Gene: VPS13D

Green List (high evidence)
VPS13D (vacuolar protein sorting 13 homolog D)
EnsemblGeneIds (GRCh38): ENSG00000048707
EnsemblGeneIds (GRCh37): ENSG00000048707
OMIM: 608877, Gene2Phenotype
VPS13D is in 6 panels

3 reviews

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

Green List (high evidence)

9 DM in HGMD. 7 reports on OMIM.
Created: 27 Apr 2019, 7:39 p.m.
Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.14

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Sufficient families across the two papers plus functional evidence for gene itself in the second
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spinocerebellar ataxia 4, 608877

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
OMIM
608877
Clinvar variants
Variants in VPS13D
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: VPS13D were changed from Autosomal recessive spinocerebellar ataxia 4, 608877; Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to VPS13D.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Autosomal recessive spinocerebellar ataxia 4, 608877 for gene: VPS13D

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VPS13D.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to VPS13D.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: VPS13D was added gene: VPS13D was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13D were set to spastic ataxia