Inherited bleeding disorders

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 22 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

VPS33B was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

VPS33B was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene