Leukodystrophy - 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

Tegan French (Victorian Clinical Genetics Services)

I don't know

Unconfirmed gene-disease association for biallelic LOF variants in PLD3 and leukodystrophy.
- Single patient in literature with homozygous frameshift nonsense variants in PLD3. This patient had leukodystrophy, vision and hearing impairment, impaired kidney function.
- Homozygous frameshift nonsense variants in another unpublished patient with leukodystrophy
Sources: Literature
Created: 27 Apr 2023, 7:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Leukodystrophy
OMIM
615698
Clinvar variants
Variants in PLD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pld3 has been classified as Amber List (Moderate Evidence).

27 Apr 2023, Gel status: 0

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

Tegan French (Victorian Clinical Genetics Services)

gene: PLD3 was added gene: PLD3 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: PLD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD3 were set to PMID: 34267643 Phenotypes for gene: PLD3 were set to Leukodystrophy Review for gene: PLD3 was set to AMBER