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Retinal disorders

Gene: NR2F1

Red List (low evidence)

NR2F1 (nuclear receptor subfamily 2 group F member 1)
EnsemblGeneIds (GRCh38): ENSG00000175745
EnsemblGeneIds (GRCh37): ENSG00000175745
OMIM: 132890, Gene2Phenotype
NR2F1 is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

NR2F1 is a green gene on the Optic neuropathy panel (code 186, version 1.117). After discussion with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) it was decided that it is all right to leave NR2F1 off this panel (Retinal disorders)
Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.
Panel Version: 1.160

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Optic atropht gene
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Details

Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722
OMIM
132890
Clinvar variants
Variants in NR2F1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NR2F1.

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NR2F1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NR2F1 was created by ellenmcdonagh