Severe early-onset obesity
Gene: BBS1
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: expert opinion plus high evidence in literatureCreated: 11 Jul 2016, 2:52 p.m.
not congenitalCreated: 8 Nov 2015, 6:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1, OMIM:209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1, 209900 to Obesity; Bardet-Biedl syndrome 1, OMIM:209900
Source Expert list was added to BBS1. Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Phenotypes for BBS1 were set to Obesity;Bardet-Biedl syndrome 1
This gene has been classified as Green List (High Evidence).
Mode of inheritance for BBS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
BBS1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory