Severe early-onset obesity

Gene: BBS9

Green List (high evidence)

BBS9 (Bardet-Biedl syndrome 9)
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 10 Oct 2020, 8:44 a.m. | Last Modified: 10 Oct 2020, 8:44 a.m.
Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 9, MIM#615986

Publications

History Filter Activity

31 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs9 has been classified as Green List (High Evidence).

31 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, OMIM:615986; Obesity to Bardet-Biedl syndrome 9, MIM#615986

31 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS9 were set to

31 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BBS9 was added gene: BBS9 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, OMIM:615986; Obesity