Glaucoma (developmental)
Gene: ASB10

ASB10 (ankyrin repeat and SOCS box containing 10)
EnsemblGeneIds (GRCh38): ENSG00000146926
EnsemblGeneIds (GRCh37): ENSG00000146926
OMIM: 615054, Gene2Phenotype
ASB10 is in 2 panels

2 reviews

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

Red List (low evidence)

glaucoma gene, can't find any evidence that it is associated with structural eye disease. All cases adult-onset glaucoma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GLAUCOMA 1, OPEN ANGLE, F; 603383

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

Panel version: Imported from Structural eye disease 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). glaucoma gene, can't find any evidence that it is associated with structural eye disease. All cases adult-onset glaucoma
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GLAUCOMA 1, OPEN ANGLE, F, 603383

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

Panel version: Imported from Structural eye disease panel version 0.38

Details

Sources

NHS GMS
Radboud University Medical Center, Nijmegen

Phenotypes

Glaucoma 1, open angle, F, 603383

OMIM

615054

Clinvar variants

Variants in ASB10

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

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.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ASB10 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen

Glaucoma (developmental) Gene: ASB10