TRPC4AP

transient receptor potential cation channel subfamily C member 4 associated protein
OMIM: 608430, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TRPC4AP in Mendeliome


Version 1.3098

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related

Amber TRPC4AP in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.53

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related