Severe early-onset obesity

Gene: BBS1

Green List (high evidence)

BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 24 panels

3 reviews

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

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

Ayesha Ahmed (GEL)

Comment on list classification: expert opinion plus high evidence in literature
Created: 11 Jul 2016, 2:52 p.m.

stephen o'rahilly (university of cambridge)

Green List (high evidence)

not congenital
Created: 8 Nov 2015, 6:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to BBS1. Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1

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 BBS1 were set to Obesity;Bardet-Biedl syndrome 1

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

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

11 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ayesha Ahmed (GEL)

Mode of inheritance for BBS1 was changed to BIALLELIC, autosomal or pseudoautosomal

11 Jul 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)

BBS1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory