TPCN2

two pore segment channel 2
OMIM: 612163, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber TPCN2 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Hypopigmentation of the skin MONDO:0019290