ARNT2

aryl hydrocarbon receptor nuclear translocator 2
OMIM: 606036, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ARNT2 in Mendeliome


Version 1.3797

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Webb-Dattani syndrome MONDO:0014404

Amber ARNT2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Webb-Dattani syndrome 615926

Amber ARNT2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Webb-Dattani syndrome 615926

Amber ARNT2 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Expert Review Amber
  • Literature
  • Genetic Health Queensland
Phenotypes
  • Webb-Dattani syndrome 615926