1. Genes and Genomic Entities
  2. NR2F1

NR2F1

nuclear receptor subfamily 2 group F member 1
OMIM: 132890, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green NR2F1 in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review 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
Green NR2F1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
Green NR2F1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722
    Red NR2F1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Green NR2F1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
    Red NR2F1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
    Red NR2F1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
    • Bosch-Boonstra-Schaaf optic atrophy syndrome, MONDO:0014320