NR6A1

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber NR6A1 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 Amber
  • Literature
Phenotypes
  • coloboma, MONDO:0001476
  • microphthalmia, MONDO:0021129
Tags
  • Q3_25_promote_green
  • Q3_25_NHS_review