Skeletal ciliopathies
Gene: BBS4Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)Created: 28 Nov 2019, 3:27 p.m. | Last Modified: 28 Nov 2019, 3:27 p.m.
Panel Version: 0.28
Polydactyly/Brachydactyly/Syndactyly phenotypeCreated: 11 Jul 2019, 1:12 p.m. | Last Modified: 11 Jul 2019, 1:12 p.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
Tag curated_removed tag was added to gene: BBS4.
Gene: bbs4 has been removed from the panel.
gene: BBS4 was added gene: BBS4 was added to Skeletal 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