NR2F2:Ensemblv90

nuclear receptor subfamily 2 group F member 2
OMIM: 107773, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green NR2F2 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital heart defects, multiple types, 4, MIM# 615779

Green NR2F2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46,XX sex reversal 5 - MIM#618901
  • Congenital heart defects, multiple types, 4 - MIM#615779

Green NR2F2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 46XX sex reversal 5, MIM# 618901

Green NR2F2 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic disease, MONDO:0002254, NR2F2-related

Green NR2F2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, NR2F2-related

Green NR2F2 in Fetal anomalies


Version 1.482

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 4, MIM# 615779

Green NR2F2 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital heart defects, multiple types, 4, MIM# 615779

Green NR2F2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • 46,XX sex reversal 5 - MIM#618901
  • Congenital heart defects, multiple types, 4 - MIM#615779

Green NR2F2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 46XX sex reversal 5, MIM# 618901