TYRP1:Ensemblv115

tyrosinase related protein 1
OMIM: 115501, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TYRP1 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type III, MIM# 203290
  • MONDO:0008747

Green TYRP1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type III, 203290 (3)

Green TYRP1 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type III, MIM# 203290
  • MONDO:0008747

Green TYRP1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type III, 203290 (3)

Green TYRP1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type III MIM#203290