Renal ciliopathies

Gene: BBS5

Green List (high evidence)

BBS5 (Bardet-Biedl syndrome 5)
EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 23 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:49 p.m.

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: BBS5 was added gene: BBS5 was added to Renal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS5 were set to 15137946 Phenotypes for gene: BBS5 were set to Bardet Biedl syndrome 5