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  3. VPS33B
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Neuromuscular arthrogryposis

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 18 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.
Created: 16 May 2019, 9:33 p.m.

Panel version: 0.16

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis renal dysfunction, and cholestasis 1, 208085

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

Created: 16 May 2019, 9:27 p.m.

Panel version: 0.15

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VPS33B.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to VPS33B. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: VPS33B was added gene: VPS33B was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction, and cholestasis 1, 208085