COVID-19 researchGene: LZTFL1
PMID:34737427 reports that selective spatial transcriptomic analysis of lung biopsies from patients with COVID-19 shows the presence of signals associated with epithelial–mesenchymal transition (EMT), a viral response pathway that is regulated by LZTFL1. The authors of PMID:34737427 conclude that pulmonary epithelial cells undergoing EMT, rather than immune cells, are likely to be responsible for the 3p21.31-associated risk, and that it is a gain-of-function LZTFL1 variant which is the cause of this effect.
Created: 9 Nov 2021, 5:16 p.m. | Last Modified: 9 Nov 2021, 5:16 p.m.
Panel Version: 1.84
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Leaving LZTFL1 Amber on this panel for now because only one family to date has been reported with situs inversus / dextrocardia (phenotype associated with motile cilia). It is green on the Rare multisystem ciliopathy disorders which covers non-motile ciliopathies.
Created: 21 Dec 2018, 11:33 a.m.
Comment on list classification: Unclear. Further evidence needed of implication of gene in disease and also whether the phenotype is relevant to this panel. Watchlist.
Created: 4 Jul 2017, 7:28 a.m.
Two unrelated families with BBS reported to date, one family had situs anomalies. Not clear if this is linked to this gene, or a separate cause. Insufficient evidence for inclusion under situs inversus phenotype at present.
Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Visceral Heterotaxy; Bardet-Biedl Syndrome 17
Gene: lztfl1 has been classified as Red List (Low Evidence).
Phenotypes for gene: LZTFL1 were changed from Visceral Heterotaxy; Bardet-Biedl Syndrome 17 to Bardet-Biedl syndrome 17 OMIM:615994
Publications for gene: LZTFL1 were set to 22510444; 23692385
gene: LZTFL1 was added gene: LZTFL1 was added to COVID-19 research. Sources: UKGTN,Expert Review Amber watchlist tags were added to gene: LZTFL1. Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTFL1 were set to 22510444; 23692385 Phenotypes for gene: LZTFL1 were set to Visceral Heterotaxy; Bardet-Biedl Syndrome 17 Penetrance for gene: LZTFL1 were set to Complete