Glaucoma (developmental)
Gene: LZTFL1EnsemblGeneIds (GRCh38): ENSG00000163818
EnsemblGeneIds (GRCh37): ENSG00000163818
OMIM: 606568, Gene2Phenotype
LZTFL1 is in 16 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 17; 615994
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 17, 615994
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 606568
- Clinvar variants
- Variants in LZTFL1
- Penetrance
- Complete
- 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
- COVID-19 research
- Retinal disorders
- Familial tumours of the nervous system
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)LZTFL1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory