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  3. LZTFL1
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Ophthalmological ciliopathies

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 16 panels

4 reviews

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.
Created: 3 Dec 2018, 10:55 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 1.78

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0

Alice Gardham (Genomics England)

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

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.444

Caroline Wright (Genomics England Curator)

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

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0.14

History Filter Activity

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: LZTFL1 was added gene: LZTFL1 was added to Ophthalmological ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTFL1 were set to 22510444; 27312011; 23692385 Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994