TPCN2

two pore segment channel 2
OMIM: 612163, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TPCN2 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.11

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

Red TPCN2 in Mendeliome


Version 1.1891

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267