Early-onset Parkinson disease
Gene: RAB39BEnsemblGeneIds (GRCh38): ENSG00000155961
EnsemblGeneIds (GRCh37): ENSG00000155961
OMIM: 300774, Gene2Phenotype
RAB39B is in 8 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Waisman syndrome is characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson's disease (PMID 25434005).In vitro study was consistent with LoF mechanism, causing dysregulation of a-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson's disease and potentially other neurodegenerative disorders (PMID 2543400).
Multiple pedigrees segregating an early onset PD phenotype with LoF and missense variants in RB39B (PMID: 25434005; 26399558; 26739247).Created: 7 Sep 2023, 2:09 a.m. | Last Modified: 7 Sep 2023, 2:09 a.m.
Panel Version: 0.260
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Waisman syndrome (MIM#311510); Intellectual developmental disorder, X-linked 72 (MIM#300271)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709
- OMIM
- 300774
- Clinvar variants
- Variants in RAB39B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rab39b has been classified as Green List (High Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: RAB39B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: RAB39B were set to
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: RAB39B were changed from to Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAB39B was added gene: RAB39B was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: RAB39B was set to Unknown