1. Panels
  2. Optic neuropathy
  3. GP1BA
STRs in panel
Prev Next
Regions in panel
Prev Next

Optic neuropathy

Gene: GP1BA

Red List (low evidence)
GP1BA (glycoprotein Ib platelet alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000185245
EnsemblGeneIds (GRCh37): ENSG00000185245
OMIM: 606672, Gene2Phenotype
GP1BA is in 5 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}

Created: 19 Mar 2019, 3:33 p.m.

Panel version: 1.28

Ellen McDonagh (Genomics England Curator)

Comment on list classification: No evidence for association with inherited optic neuropathies found in a literature search.
Created: 7 Sep 2016, 7:53 a.m.
Created: 7 Sep 2016, 7:53 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}
OMIM
606672
Clinvar variants
Variants in GP1BA
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source London North GLH was added to GP1BA.

13 Sep 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.

7 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Sep 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GP1BA were set to {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GP1BA was added to Inherited optic neuropathies    panel. Sources: Radboud University Medical Center, Nijmegen