Limb disordersGene: LZTFL1
Comment on list classification: Gene made grey as it is on the Rare multisystem ciliopathy disorders panel (v1.79) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. Currently red on cilliopathy panel but this will be reviewed.
Created: 11 Dec 2018, 10:21 a.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 22510444)
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bardet-Biedl syndrome 17 615994
Sarah Leigh: Associated with phenotype in O
Gene: lztfl1 has been removed from the panel.
Gene: lztfl1 has been classified as Green List (High Evidence).
Source Expert Review Green was added to LZTFL1. Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 17 615994 for gene: LZTFL1 Publications for gene LZTFL1 were changed from to 22510444; 23692385 Rating Changed from Red List (low evidence) to Green List (high evidence)
LZTFL1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
LZTFL1 was created by Ellen McDonagh