Structural eye disease
Gene: AGBL1

AGBL1 (ATP/GTP binding protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000273540
EnsemblGeneIds (GRCh37): ENSG00000166748
OMIM: 615496, Gene2Phenotype
AGBL1 is in 2 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Late onset corneal dystrophy, no evidence for involvement in structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Fuchs endothelial, 8; 615523

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). Late onset corneal dystrophy, no evidence for involvement in structural eye disease
Created: 18 Apr 2019, 10:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Fuchs endothelial, 8; 615523

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

Corneal dystrophy, Fuchs endothelial, 8, 615523

OMIM

615496

Clinvar variants

Variants in AGBL1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: AGBL1 was added gene: AGBL1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, 615523

Structural eye disease Gene: AGBL1