Deafness_IsolatedAndComplex
Gene: VPS33BEnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated individuals reported with this phenotype.
This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: LiteratureCreated: 31 Dec 2019, 6:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive keratoderma-ichthyosis-deafness
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Autosomal recessive keratoderma-ichthyosis-deafness
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vps33b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vps33b has been classified as Green List (High Evidence).
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 Deafness_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 30561130; 28017832 Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness Review for gene: VPS33B was set to GREEN