Skeletal ciliopathies
Gene: LZTFL1
LZTFL1 (leucine zipper transcription factor like 1)
EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels
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: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)Created: 28 Nov 2019, 3:31 p.m. | Last Modified: 28 Nov 2019, 3:31 p.m.
Panel Version: 0.36
Associated with Bardet-Biedl syndrome 17 #615994 (AR) in OMIM with polydactyly of hands and feet listed as clinical features.Created: 14 Nov 2019, 11:52 a.m. | Last Modified: 14 Nov 2019, 11:52 a.m.
Panel Version: 0.15
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.
Alice Gardham (Genomics England)
Comment on list classification: Red on BBS panelCreated: 25 Jan 2017, 10:56 a.m.
Caroline Wright (Genomics England Curator)
Comment on list classification: 2 families reported in literatureCreated: 17 Dec 2015, 2:50 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Bardet-Biedl syndrome 17, 615994
- Tags
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Laterality disorders and isomerism
- Ophthalmological ciliopathies
- Limb disorders
- Intellectual disability
- COVID-19 research
- Retinal disorders
- Familial tumours of the nervous system
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Primary ciliary disorders
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: LZTFL1.
28 Nov 2019, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: lztfl1 has been removed from the panel.
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: LZTFL1 was added gene: LZTFL1 was added to Skeletal 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