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  3. VPS33B
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Lysosomal Storage Disorder

Gene: VPS33B

Green List (high evidence)
VPS33B (VPS33B, late endosome and lysosome associated)
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

VPS proteins are involved in Golgi-to-lysosome trafficking.

More than 20 unrelated families reported.
Sources: Expert list
Created: 29 Jan 2021, 9:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085

Publications

Created: 29 Jan 2021, 9:05 p.m.

Panel version: 0.59

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps33b 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: vps33b 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: VPS33B was added gene: VPS33B was added to Lysosomal Storage Disorder. Sources: Expert list Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 16896922 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085 Review for gene: VPS33B was set to GREEN