Severe early-onset obesity
Gene: VPS13BComment on phenotypes: Previous phenotypes:
Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhoodCreated: 17 Mar 2021, 1:50 p.m. | Last Modified: 17 Mar 2021, 1:50 p.m.
Panel Version: 2.33
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Expert opinion + association with Cohen symdrome (COH1) + omportant regulator in adipogenesis (OMIM)Created: 9 Sep 2016, 4:39 a.m.
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
Source Expert list was added to VPS13B. Added phenotypes Cohen syndrome, 216550 for gene: VPS13B
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Phenotypes for VPS13B were set to Obesity; Cohen syndrome; Truncal obesity developing in mid-childhood
Phenotypes for VPS13B were set to Obesity;Cohen syndrome;Truncal obesity developing in mid-childhood;
This gene has been classified as Green List (High Evidence).
Mode of inheritance for VPS13B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
VPS13B was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory