1. Panels
  2. Renal and urinary tract disorders
  3. BBS2
STRs in panel
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Renal and urinary tract disorders

Gene: BBS2

Red List (low evidence)
BBS2 (Bardet-Biedl syndrome 2)
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 20 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: BBS gene - not including syndromic genes on this panel.
Created: 10 May 2016, 10:05 a.m.
Created: 10 May 2016, 10:05 a.m.

Panel version: Imported from Cystic kidney disease panel version 0.14

Miranda Durkie (Genetics)

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 10:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome type 5

Publications

Created: 22 Oct 2015, 10:39 a.m.

Panel version: Imported from Cystic kidney disease panel version 0

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Miranda Durkie: No current test experience but

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: BBS2

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: BBS2 was added gene: BBS2 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: BBS2 was set to Unknown Phenotypes for gene: BBS2 were set to Ciliopathy genes associated with cystic kidney disease