Leukodystrophy - adult onset
Gene: PLD3
PLD3 (phospholipase D family member 3)
EnsemblGeneIds (GRCh38): ENSG00000105223
EnsemblGeneIds (GRCh37): ENSG00000105223
OMIM: 615698, Gene2Phenotype
PLD3 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000105223
EnsemblGeneIds (GRCh37): ENSG00000105223
OMIM: 615698, Gene2Phenotype
PLD3 is in 3 panels
1 review
Tegan French (Victorian Clinical Genetics Services)
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- Homozygous frameshift nonsense variants in another unpublished patient with leukodystrophy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: LiteratureCreated: 27 Apr 2023, 7:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy
Publications
- PMID: 34267643
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Leukodystrophy
- OMIM
- 615698
- Clinvar variants
- Variants in PLD3
- Penetrance
- None
- Publications
-
- PMID: 34267643
- 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