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Severe early-onset obesity

Gene: VPS13B

Green List (high evidence)
VPS13B (vacuolar protein sorting 13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 15 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Truncal obesity (aka abnormal truncal fat distribution) is a feature of Cohen syndrome and may develop in or after mid-childhood
Average age of onset is 11.3 years (genereviews).
Created: 31 Oct 2021, 10:22 p.m. | Last Modified: 31 Oct 2021, 10:22 p.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome MIM#216550

Publications

Created: 31 Oct 2021, 10:22 p.m.
Last Modified: 31 Oct 2021, 10:22 p.m.
Panel version: 0.22

History Filter Activity

1 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps13b has been classified as Green List (High Evidence).

1 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, OMIM:216550 to Cohen syndrome MIM#216550

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS13B were set to

31 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS13B was added gene: VPS13B was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Obesity; Cohen syndrome, OMIM:216550