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  3. VPS13D
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Hereditary neuropathy or pain disorder

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:02 p.m.
Last Modified: 24 Feb 2025, 5:02 p.m.
Panel version: 6.148

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Biallelic variants in VPS13D cause a progressive spinocerebellar ataxia which can be associated with mild to moderate axonal sensorineural peripheral neuropathy. Sufficient unrelated cases to justify inclusion on the panel.
Created: 25 Oct 2024, 11:03 a.m. | Last Modified: 25 Oct 2024, 11:03 a.m.
Panel Version: 5.78
Created: 25 Oct 2024, 11:03 a.m.
Last Modified: 25 Oct 2024, 11:03 a.m.
Panel version: 5.78

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Sources: Expert list
Created: 19 Oct 2024, 11:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ataxia; spasticity; peripheral neuropathy

Publications

Created: 19 Oct 2024, 11:41 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317
OMIM
608877
Clinvar variants
Variants in VPS13D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: VPS13D. Tag Q3_24_NHS_review was removed from gene: VPS13D.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to VPS13D. Source Expert Review Green was added to VPS13D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Oct 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: VPS13D were changed from ataxia; spasticity; peripheral neuropathy to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317

25 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: vps13d has been classified as Amber List (Moderate Evidence).

25 Oct 2024, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: VPS13D. Tag Q3_24_NHS_review tag was added to gene: VPS13D.

19 Oct 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: VPS13D was added gene: VPS13D was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13D were set to 29518281: 29604224: 14681893: 11960835 Phenotypes for gene: VPS13D were set to ataxia; spasticity; peripheral neuropathy Penetrance for gene: VPS13D were set to Complete Review for gene: VPS13D was set to GREEN