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Mendeliome

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)

Multiple families reported.
Created: 19 Mar 2022, 2:28 a.m. | Last Modified: 19 Mar 2022, 2:28 a.m.
Panel Version: 0.11597

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

19 Mar 2022, 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).

19 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)

19 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS33B were set to

19 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VPS33B was set to Unknown