VPS13D Chromosome 1

Vacuolar protein sorting 13 homolog D

85 variants 85 Health Risk

Upload your DNA to see your personal genotypes for variants in VPS13D.

What This Gene Does

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Small nucleolar RNA protein coding host genes|Bridge-like lipid transfer protein family"

Locus Type

gene with protein product

Location

1p36.22-p36.21

Ensembl

ENSG00000048707

Associated Conditions (9)

Inborn genetic diseases

VPS13D-related disorder

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Arthrogryposis multiplex congenita

Fetal akinesia deformation sequence 1

Leigh syndrome

Spinocerebellar atrophy

Spinocerebellar ataxia type 4

Autosomal recessive cerebellar ataxia

Key Variants

RS112983641

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS116415833

Conflicting classifications of pathogenicity

Health Risk

RS116796597

Conflicting classifications of pathogenicity

Health Risk

RS12407578

Conflicting classifications of pathogenicity

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, VPS13D-related disorder, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Health Risk

RS138906978

Conflicting classifications of pathogenicity

Health Risk

RS1397045479

Conflicting classifications of pathogenicity

Inborn genetic diseases, VPS13D-related disorder, Inborn genetic diseases

Health Risk

RS140096920

Conflicting classifications of pathogenicity

Health Risk

RS141972334

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS142033335

Conflicting classifications of pathogenicity

Health Risk

RS142087616

Conflicting classifications of pathogenicity

Health Risk

RS142822216

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS143146120

Conflicting classifications of pathogenicity

Health Risk

All Variants (85)

RSID	Category	Clinical Significance	Conditions
RS1557680710	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS1557684974	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS1557705968	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS1641657166	Health Risk	Pathogenic	—
RS1643227639	Health Risk	Pathogenic	—
RS1645321968	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS201820442	Health Risk	Pathogenic	—
RS2521522129	Health Risk	Pathogenic	—
RS2521537710	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2523923494	Health Risk	Pathogenic	—
RS2523928931	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2523943921	Health Risk	Pathogenic	—
RS2523975768	Health Risk	Pathogenic	—
RS2524056466	Health Risk	Pathogenic	—
RS2524078674	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2524199730	Health Risk	Pathogenic	—
RS2524322289	Health Risk	Pathogenic	—
RS2524377730	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2524405777	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia, Autosomal recessive cerebellar ataxia
RS2524405833	Health Risk	Pathogenic	—
RS2524443241	Health Risk	Pathogenic	—
RS746736545	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS747718173	Health Risk	Pathogenic	—
RS756025227	Health Risk	Pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS757345929	Health Risk	Pathogenic	—
RS763507962	Health Risk	Pathogenic	—
RS778888582	Health Risk	Pathogenic	—
RS779344464	Health Risk	Pathogenic	—
RS889480427	Health Risk	Pathogenic	—
RS1288603602	Health Risk	Pathogenic/Likely pathogenic	VPS13D-related disorder, VPS13D-related disorder
RS1557680919	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS1569704391	Health Risk	Pathogenic/Likely pathogenic	—
RS2101602721	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases
RS372431023	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS758368974	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

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