TRPC4AP:Ensemblv115

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber TRPC4AP in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 1.0

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