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  3. BBS5
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Severe early-onset obesity

Gene: BBS5

Green List (high evidence)
BBS5 (Bardet-Biedl syndrome 5)
EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 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, 1:39 a.m. | Last Modified: 10 Oct 2020, 1:39 a.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434

Publications

Created: 10 Oct 2020, 1:39 a.m.
Last Modified: 10 Oct 2020, 1:39 a.m.
Panel version: Imported from Bardet Biedl syndrome panel version 1.2

History Filter Activity

31 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs5 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: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, OMIM:615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434

31 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS5 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: BBS5 was added gene: BBS5 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Obesity; Bardet-Biedl syndrome 5, OMIM:615983