Renal ciliopathiesGene: BBS4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Variants have been found in combination with variants in other BBS genes, however also found independently (PMID: 22353939).
Created: 12 Dec 2016, 12:47 p.m.
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:48 p.m.
gene: BBS4 was added gene: BBS4 was added to Renal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS4 were set to 11381270; 22353939 Phenotypes for gene: BBS4 were set to Bardet Biedl syndrome 4