Structural eye disease
Gene: LZTFL1

LZTFL1 (leucine zipper transcription factor like 1)
EnsemblGeneIds (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)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17; 615994

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 17, 615994

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.47

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Bardet-Biedl syndrome 17, 615994
Eye Disorders

OMIM

606568

Clinvar variants

Variants in LZTFL1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LZTFL1. Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LZTFL1 was added gene: LZTFL1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LZTFL1 was set to Phenotypes for gene: LZTFL1 were set to Eye Disorders

Structural eye disease Gene: LZTFL1