1. Panels
  2. Hereditary ataxia
  3. VPS13D

Hereditary ataxia

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Work published at ESHG 2018 by Maria Dulovic. 3 families with spastic ataxia. Just published 29604224
Created: 5 Jul 2018, 10:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic ataxia

Created: 5 Jul 2018, 10:08 a.m.

Panel version: 1.118

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
OMIM
608877
Clinvar variants
Variants in VPS13D
Penetrance
None
Publications
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 Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317

4 Mar 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: VPS13D were set to

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

5 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Gene: vps13d has been classified as Green List (High Evidence).

5 Jul 2018, Gel status: 1

Added New Source

Arianna Tucci (Genomics England Curator)

VPS13D was added to Hereditary ataxia panel. Sources: Research

5 Jul 2018, Gel status: 1

Created

Arianna Tucci (Genomics England Curator)

VPS13D was created by Arianna Tucci