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  3. VPS13B
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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 13 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhood
Created: 17 Mar 2021, 1:50 p.m. | Last Modified: 17 Mar 2021, 1:50 p.m.
Panel Version: 2.33
Created: 17 Mar 2021, 1:50 p.m.
Last Modified: 17 Mar 2021, 1:50 p.m.
Panel version: 2.33

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

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

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

Ayesha Ahmed (GEL)

Comment on list classification: Expert opinion + association with Cohen symdrome (COH1) + omportant regulator in adipogenesis (OMIM)
Created: 9 Sep 2016, 4:39 a.m.
Created: 9 Sep 2016, 4:39 a.m.

Panel version: 0.103

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Created: 27 Dec 2015, 5:27 p.m.

Panel version: 0.50

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, 216550; Cohen syndrome; Truncal obesity developing in mid-childhood to Obesity; Cohen syndrome, OMIM:216550

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to VPS13B. Added phenotypes Cohen syndrome, 216550 for gene: VPS13B

25 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

18 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VPS13B were set to Obesity; Cohen syndrome; Truncal obesity developing in mid-childhood

18 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VPS13B were set to Obesity;Cohen syndrome;Truncal obesity developing in mid-childhood;

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

9 Sep 2016, Gel status: 4

Set Mode of Inheritance

Ayesha Ahmed (GEL)

Mode of inheritance for VPS13B was changed to BIALLELIC, autosomal or pseudoautosomal

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

VPS13B was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory