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  3. NR2F1
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Structural eye disease

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 7 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting from grey to red as 1 case reported.
Created: 9 Sep 2022, 11:40 p.m. | Last Modified: 9 Sep 2022, 11:40 p.m.
Panel Version: 1.146
As Samantha Malka comments PMID:34787370 (Gazdagh et al 2022) report a severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) in a patient with a de novo missense variant in the start codon of the NR2F1 gene. The patient showed a typical BBSOAS phenotype with developmental delay, seizures, optic atrophy however this patient also had colobomas and septo-optic dysplasia.
Created: 9 Sep 2022, 11:39 p.m. | Last Modified: 9 Sep 2022, 11:39 p.m.
Panel Version: 1.144
Created: 9 Sep 2022, 11:39 p.m.
Last Modified: 9 Sep 2022, 11:39 p.m.
Panel version: 1.144

Samantha Malka (Moorfields Eye Hospital)

Red List (low evidence)

One report in literature of a phenotype including coloboma
Sources: Literature
Created: 2 Sep 2022, 10:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bosch-Boonstra-Schaaf optic atrophy syndrome

Publications

Mode of pathogenicity
Other

Created: 2 Sep 2022, 10:50 a.m.

Panel version: 1.132

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, MONDO:0014320
OMIM
132890
Clinvar variants
Variants in NR2F1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nr2f1 has been classified as Red List (Low Evidence).

9 Sep 2022, Gel status: 0

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: NR2F1 was changed from Other to None

9 Sep 2022, Gel status: 0

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NR2F1 were set to PMID: 34787370

9 Sep 2022, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NR2F1 were changed from Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722; Bosch-Boonstra-Schaaf optic atrophy syndrome, MONDO:0014320

2 Sep 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Samantha Malka (Moorfields Eye Hospital)

gene: NR2F1 was added gene: NR2F1 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F1 were set to PMID: 34787370 Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome Penetrance for gene: NR2F1 were set to Complete Mode of pathogenicity for gene: NR2F1 was set to Other Review for gene: NR2F1 was set to RED