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Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID reported in this condition.
Created: 4 Dec 2019, 10:47 p.m. | Last Modified: 4 Dec 2019, 10:47 p.m.
Panel Version: 0.367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085

Publications

History Filter Activity

14 Jan 2020, 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).

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from VPS33B. Source Expert list was added to VPS33B. Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085 Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS33B was added gene: VPS33B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS33B was set to Unknown