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  2. Ataxia and cerebellar anomalies - narrow panel
  3. VPS13D
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Ataxia and cerebellar anomalies - narrow panel

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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 Spinocerebellar ataxia, autosomal recessive 4, 607317 to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317

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

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: VPS13D was added gene: VPS13D was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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