CTBP2

C-terminal binding protein 2
OMIM: 602619, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CTBP2 in Mendeliome


Version 2.362

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital hypothyroidism MONDO:0018612, CTBP2-related

Red CTBP2 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 1.7

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Congenital hypothyroidism MONDO:0018612, CTBP2-related