Rare multisystem ciliopathy disorders
Gene: LZTFL1Comment 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 panelCreated: 25 Jan 2017, 10:56 a.m.
Comment on list classification: 2 families reported in literatureCreated: 17 Dec 2015, 2:50 p.m.
Gene: lztfl1 has been classified as Green List (High Evidence).
Publications for gene: LZTFL1 were set to PMID: 22510444; 23692385
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
Publications for LZTFL1 were set to PMID: 22510444; 23692385
This gene has been classified as Red List (Low Evidence).
LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene LZTFL1 were set to Bardet-Biedl syndrome 17, 615994
LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
LZTFL1 was created by ellenmcdonagh