Severe early-onset obesity
Gene: BBS9EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 panels
3 reviews
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
Ayesha Ahmed (GEL)
Comment on list classification: expert opinion + published dataCreated: 19 Aug 2016, 10:33 a.m.
stephen o'rahilly (university of cambridge)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Obesity
- Bardet-Biedl syndrome 9, OMIM:615986
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Severe early-onset obesity
- Fetal anomalies
- Cystic kidney disease
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS9 were changed from Obesity; Bardet-Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9 to Obesity; Bardet-Biedl syndrome 9, OMIM:615986
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to BBS9. Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9
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.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS9 were set to Obesity;Bardet-Biedl syndrome 9
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)BBS9 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory