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Ataxia - adult onset

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven unrelated families reported, some functional data. Age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability.
Created: 16 Apr 2020, 7:13 a.m. | Last Modified: 16 Apr 2020, 7:13 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317

Publications

Created: 16 Apr 2020, 7:13 a.m.
Last Modified: 16 Apr 2020, 7:13 a.m.
Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317
OMIM
608877
Clinvar variants
Variants in VPS13D
Penetrance
None
Panels with this gene

History Filter Activity

10 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS13D was added gene: VPS13D was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, 607317; Autosomal recessive spinocerebellar ataxia 4, 608877