Optic neuropathy
Gene: NR2F1
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
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.
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.
Source London North GLH was added to NR2F1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NR2F1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NR2F1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
NR2F1 was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen