TPCN2

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TPCN2 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.15

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • albinism, TPCN2-related - MONDO:0043209

Amber TPCN2 in Mendeliome


Version 1.4605

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • albinism, TPCN2-related - MONDO:0043209