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Ataxia - adult onset

Gene: PLD3

Amber List (moderate evidence)
PLD3 (phospholipase D family member 3)
EnsemblGeneIds (GRCh38): ENSG00000105223
EnsemblGeneIds (GRCh37): ENSG00000105223
OMIM: 615698, Gene2Phenotype
PLD3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A heterozygous missense was identified in 8 affected members of a single family with spinocerebellar ataxia, and supporting in vitro functional assays.
Created: 17 Apr 2020, 3:29 a.m. | Last Modified: 17 Apr 2020, 3:29 a.m.
Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 46 MIM#617770

Publications

Created: 17 Apr 2020, 3:29 a.m.
Last Modified: 17 Apr 2020, 3:29 a.m.
Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Spinocerebellar ataxia 46
OMIM
615698
Clinvar variants
Variants in PLD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLD3 was added gene: PLD3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLD3 were set to 30312375; 30312384; 29053796 Phenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46