NR6A1:Ensemblv90

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NR6A1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.53

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculovertebral syndrome, MIM# 621277

Green NR6A1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.160

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculovertebral syndrome, MIM# 621277

    Green NR6A1 in Mendeliome


    Version 1.3802

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculovertebral syndrome, MIM# 621277

    Green NR6A1 in Fetal anomalies


    Version 1.482

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculovertebral syndrome, MIM# 621277

    Green NR6A1 in Anophthalmia_Microphthalmia_Coloboma


    Level 2: Ophthalmological disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Oculovertebral syndrome, MIM# 621277

    Green NR6A1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


    Level 2: Renal and urinary tract disorders
    Version 1.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Oculovertebral syndrome, MIM# 621277

    Green NR6A1 in Fetal anomalies


    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Oculovertebral syndrome, MIM# 621277