1. Genes and Genomic Entities
  2. NR2F1

NR2F1

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red NR2F1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green NR2F1 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

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, 615722
Red NR2F1 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME
Green NR2F1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Green NR2F1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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 OPTIC ATROPHY SYNDROME
    Red NR2F1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    Green NR2F1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722