Primary ciliary disorders
Gene: LZTFL1EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels
2 reviews
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Visceral Heterotaxy
- Bardet-Biedl Syndrome 17
- Tags
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Glaucoma (developmental)
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Laterality disorders and isomerism
- Limb disorders
- Ophthalmological ciliopathies
- Retinal disorders
- COVID-19 research
- Familial tumours of the nervous system
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
History Filter Activity
Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Phenotypes for gene: LZTFL1 were changed from Visceral Heterotaxy; Bardet-Biedl Syndrome 17 to Visceral Heterotaxy; Bardet-Biedl Syndrome 17 Publications for gene: LZTFL1 were updated from 22510444; 23692385 to 22510444; 23692385
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Helen Brittain (Genomics England Curator)LZTFL1 was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)LZTFL1 was added to Primary ciliary disorderspanel. Sources: UKGTN