Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Ichthyosis v0.5 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Ichthyosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis v0.5 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Ichthyosis v0.5 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Ichthyosis v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Ichthyosis_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
Added comment: Four unrelated individuals reported with this phenotype. This condition is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085).
Sources: Literature