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Lysosomal Storage Disorder

Gene: VIPAS39

Green List (high evidence)
VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)
EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

VIPAR is involved in intracellular sorting and trafficking of lysosomal proteins.

More than 5 unrelated families reported.
Sources: Expert list
Created: 29 Jan 2021, 9:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404

Publications

Created: 29 Jan 2021, 9:11 p.m.

Panel version: 0.61

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vipas39 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vipas39 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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