Bardet Biedl syndrome

Gene: LZTFL1

Green List (high evidence)

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

6 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene has been agreed to be green by the GMS Eye Specialist group.
Created: 2 Oct 2019, 2:28 p.m. | Last Modified: 2 Oct 2019, 2:28 p.m.
Panel Version: 0.24

Tom Cullup (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17 615994

Publications

Eleanor Williams (Genomics England Curator)

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.

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Alice Gardham (Genomics England)

Comment on list classification: Red on BBS panel
Created: 25 Jan 2017, 10:56 a.m.

Caroline Wright (Genomics England Curator)

Comment on list classification: 2 families reported in literature
Created: 17 Dec 2015, 2:50 p.m.

History Filter Activity

15 Mar 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LZTFL1. Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1 Publications for gene LZTFL1 were changed from to 22510444

15 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: LZTFL1 was added gene: LZTFL1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994