NR6A1

nuclear receptor subfamily 6 group A member 1
OMIM: 602778, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NR6A1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.198
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Oculovertebral syndrome, OMIM:621277
Amber NR6A1 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.49
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Oculovertebral syndrome, OMIM:621277
    • oculovertebral syndrome, MONDO:0979866
    Tags
    • Q2_26_promote_green
    Green NR6A1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.44
    Latest signed off version: v4.0 (7 Aug 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • coloboma, MONDO:0001476
    • microphthalmia, MONDO:0021129
    • Oculovertebral syndrome, OMIM:621277
    • oculovertebral syndrome, MONDO:0979866