Rare multisystem ciliopathy disorders
Gene: LZTFL1EnsemblGeneIds (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.
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 Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Bardet-Biedl syndrome 17, 615994
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- Complete
- 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
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: lztfl1 has been classified as Green List (High Evidence).
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: LZTFL1 were set to PMID: 22510444; 23692385
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for LZTFL1 were set to PMID: 22510444; 23692385
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene LZTFL1 were set to Bardet-Biedl syndrome 17, 615994
Added New Source
Ellen McDonagh (Genomics England Curator)LZTFL1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)LZTFL1 was created by ellenmcdonagh