Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.61 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 22753090; 26808426
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: VIPAR is involved in intracellular sorting and trafficking of lysosomal proteins.

More than 5 unrelated families reported.
Sources: Expert list