POLR2C

RNA polymerase II subunit C
OMIM: 180663, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber POLR2C in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
Tags
  • watchlist
Red POLR2C in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • thrombocytopenia, MONDO:0002049
Red POLR2C in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • thrombocytopenia, MONDO:0002049
Red POLR2C in Congenital hypothyroidism


Level 2: Endocrinology
Version 3.3
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hypothyroidism, MONDO:0005420