Optic neuropathy
Gene: NR2F1EnsemblGeneIds (GRCh38): ENSG00000175745
EnsemblGeneIds (GRCh37): ENSG00000175745
OMIM: 132890, Gene2Phenotype
NR2F1 is in 7 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: A syndromic form of optic atrophy. This should be green in case the rest of the phenotype hasn't been taken into account in recruiting the patient.Created: 11 Sep 2016, 9:15 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Four patients with Bosch-Boonstra-Schaaf optic atrophy syndrome originally reported in PMID: 24462372 with different heterozygous variants within this gene. A second publication (including some of the same authors) reports novel variants in additional patients, with a possible genotype-phenotype correlation (PMID: 26986877). It is a confirmed DD gene for Bosch-Boonstra Optic Atrophy Syndrome.Created: 7 Sep 2016, 9:45 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
- OMIM
- 132890
- Clinvar variants
- Variants in NR2F1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NR2F1 were changed from Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to NR2F1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for NR2F1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NR2F1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()NR2F1 was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen