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Prepair 1000+

Gene: VPS33B

Green List (high evidence)

VPS33B (VPS33B, late endosome and lysosome associated)
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 16 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The VPS33B gene is associated with three AR conditions (OMIM) that are possibly a spectrum:

1. Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: rare multisystem disorder. Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life.
2. Cholestasis, progressive familial intrahepatic, 12: only a few reports without arthrogryposis, or with less severe symptoms and longer lifespan, indicating an attenuated phenotype. Both individuals reported had p.(Cys576Arg), one homozygous and the other cHet with p.(Lys504GlufsTer. Reports were of early onset (PMID: 31479177).
3. Keratoderma-ichthyosis-deafness syndrome: Clinical features include ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, microcephaly and short stature. It has been associated with a founder effect for p.(Gly131Glu), but two other variants reported, and three families altogether with different variant combinations.

NB: Reportability in a screening context (Prepair) might require further assessment of severity of phenotype associated with the variant of interest.
Created: 4 Apr 2025, 3:20 a.m. | Last Modified: 4 Apr 2025, 3:20 a.m.
Panel Version: 1.1826

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085; Cholestasis, progressive familial intrahepatic, 12 MIM#620010; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085
  • Cholestasis, progressive familial intrahepatic, 12 MIM#620010
  • Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009
OMIM
608552
Clinvar variants
Variants in VPS33B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps33b has been classified as Green List (High Evidence).

4 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) to Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085; Cholestasis, progressive familial intrahepatic, 12 MIM#620010; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009

4 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS33B were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS33B was added gene: VPS33B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)