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Intellectual disability syndromic and non-syndromic

Gene: VPS16

Green List (high evidence)

VPS16 (VPS16, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000215305
EnsemblGeneIds (GRCh37): ENSG00000215305
OMIM: 608550, Gene2Phenotype
VPS16 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

for AR MPS - developmental delay reported
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: Literature
Created: 7 Apr 2022, 1:29 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
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: vps16 has been classified as Green List (High Evidence).

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: vps16 has been classified as Green List (High Evidence).

7 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: vps16 has been classified as Red List (Low Evidence).

7 Apr 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: VPS16 was added gene: VPS16 was added to Intellectual disability syndromic and non-syndromic. 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 Review for gene: VPS16 was set to GREEN gene: VPS16 was marked as current diagnostic