Bardet-Biedl Syndrome
Gene: LZTFL1EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Bardet‐Biedl syndrome 17
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Limb disorders
- Intellectual disability
- COVID-19 research
- Familial tumours of the nervous system
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Retinal disorders
- Laterality disorders and isomerism
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
- Primary ciliary disorders
- Fetal anomalies
- Skeletal ciliopathies
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LZTFL1 were set to PMID: 22510444; 23692385
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LZTFL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()LZTFL1 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()LZTFL1 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen