This Panel is marked as Internal
Isomerism and laterality disorders
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
1 review
Ellen McDonagh (Genomics England Curator)
This is the HGNC-approved symbol for BBS17.Created: 21 Jun 2016, 1:04 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Visceral Heterotaxy
- Bardet-Biedl Syndrome 17
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Renal ciliopathies
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Bardet Biedl syndrome
- COVID-19 research
- Limb disorders
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Intellectual disability
- Familial tumours of the nervous system
- Fetal anomalies
- Glaucoma (developmental)
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
21 Jun 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
16 May 2016, Gel status: 0
Added New Source
Kirsty McCaffrey (Manchester Centre for Genomic Medicine)LZTFL1 was added to Isomerism and laterality disorderspanel. Sources: UKGTN
16 May 2016, Gel status: 0
Created
Kirsty McCaffrey (Manchester Centre for Genomic Medicine)LZTFL1 was created by Kirsty McCaffrey