Lysosomal Storage Disorder
Gene: VPS16EnsemblGeneIds (GRCh38): ENSG00000215305
EnsemblGeneIds (GRCh37): ENSG00000215305
OMIM: 608550, Gene2Phenotype
VPS16 is in 5 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys
RNA and functional studies done on the splice variant
also associated with AD dystonia
PMID:34901436 suggests dystonia is transcript specific
Sources: LiteratureCreated: 7 Apr 2022, 1:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
- OMIM
- 608550
- Clinvar variants
- Variants in VPS16
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: vps16 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: vps16 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: vps16 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: vps16 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: VPS16 was added gene: VPS16 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS16 were set to 33938619; 34013567; 34901436 Phenotypes for gene: VPS16 were set to mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Penetrance for gene: VPS16 were set to unknown Review for gene: VPS16 was set to GREEN gene: VPS16 was marked as current diagnostic