NR6A1

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

2 panels

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


Level 2: Fetal (including NIPD)
Version 6.181
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
Green NR6A1 in Structural eye disease


Level 2: Ophthalmology
Version 4.40
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