POLR3H:Ensemblv90

RNA polymerase III subunit H
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POLR3H in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency MONDO:0005387, POLR3H-related

Amber POLR3H in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.391

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency MONDO:0005387, POLR3H-related

Amber POLR3H in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Primary ovarian insufficiency MONDO:0005387, POLR3H-related