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COVID-19 research

Gene: LZTFL1

Red List (low evidence)

LZTFL1 (leucine zipper transcription factor like 1)
EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 17 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Eleanor Williams (Genomics England Curator)

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.

Helen Brittain (Genomics England Curator)

I don't know

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

Phenotypes
Visceral Heterotaxy; Bardet-Biedl Syndrome 17

Publications

History Filter Activity

9 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lztfl1 has been classified as Red List (Low Evidence).

9 Nov 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LZTFL1 were changed from Visceral Heterotaxy; Bardet-Biedl Syndrome 17 to Bardet-Biedl syndrome 17 OMIM:615994

9 Nov 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LZTFL1 were set to 22510444; 23692385

9 Nov 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Sarah Leigh (Genomics England Curator)

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