Renal ciliopathiesGene: LZTFL1
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.
gene: LZTFL1 was added gene: LZTFL1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTFL1 were set to 22510444; 27312011; 23692385 Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994