Bardet Biedl syndromeGene: LZTFL1
This gene has been agreed to be green by the GMS Eye Specialist group.
Created: 2 Oct 2019, 2:28 p.m. | Last Modified: 2 Oct 2019, 2:28 p.m.
Panel Version: 0.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bardet-Biedl syndrome 17 615994
Comment on list classification: Updating from red to green due to 2 unrelated cases reported plus evidence that this is a cilium protein from mouse model.
Created: 11 Dec 2018, 12:07 p.m.
Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in 2 unrelated cases, together with supportive in vitro studies (PMID: 23692385 and 22510444). Lztfl1 knockout mice show differences in regulation of weight and abnormalities in the retinas. LZTFL1 was localized to the primary cilium of kidney cells. (PMID: 27312011)
Created: 3 Dec 2018, 10:55 p.m.
Comment on list classification: Red on BBS panel
Created: 25 Jan 2017, 10:56 a.m.
Comment on list classification: 2 families reported in literature
Created: 17 Dec 2015, 2:50 p.m.
Source NHS GMS was added to LZTFL1. Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1 Publications for gene LZTFL1 were changed from to 22510444
gene: LZTFL1 was added gene: LZTFL1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994