Renal ciliopathies

Gene: BBS12

Green List (high evidence)

BBS12 (Bardet-Biedl syndrome 12)
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 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, 3:47 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: BBS12 was added gene: BBS12 was added to Renal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS12 were set to 17160889 Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12