Severe early-onset obesity
Gene: BBS2
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Evidence in literatureCreated: 14 Aug 2016, 7:45 a.m.
Comment on list classification: Evidence in literature & expert opinionCreated: 14 Aug 2016, 7:43 a.m.
Comment on list classification: Evidence in literature & expert opinionCreated: 14 Aug 2016, 7:42 a.m.
Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2, 615981 to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Source Expert list was added to BBS2. Added phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Phenotypes for BBS2 were set to Obesity;Bardet-Biedl syndrome 2
This gene has been classified as Green List (High Evidence).
Mode of inheritance for BBS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
BBS2 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory