Renal Tubulopathies and related disorders
Gene: VPS33B
VPS33B (VPS33B, late endosome and lysosome associated)
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported.Created: 19 Mar 2022, 2:30 a.m. | Last Modified: 19 Mar 2022, 2:30 a.m.
Panel Version: 0.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_Tubulopathies v38.1.0
- Expert Review Green
- KidGen_Tubulopathies v38.1.0
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Palmoplantar Keratoderma and Erythrokeratoderma
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Ichthyosis
- Renal Tubulopathies and related disorders
History Filter Activity
1 Dec 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VPS33B was added gene: VPS33B was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 31777725; 31240160; 24415890; 15052268 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)