Renal ciliopathies

Gene: BBS10

Green List (high evidence)

BBS10 (Bardet-Biedl syndrome 10)
EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 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, 3:46 p.m.
Comment on phenotypes: Bardet‐Biedl syndrome 10
Created: 1 Feb 2016, 10:13 a.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: BBS10 was added gene: BBS10 was added to Renal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS10 were set to 16582908 Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10