TYR:Ensemblv115

tyrosinase
OMIM: 606933, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TYR 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 IA, MIM# 203100
  • MONDO:0008745
  • Albinism, oculocutaneous, type IB, MIM# 606952

Red TYR in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Albinism, oculocutaneous, type IA, MIM# 203100

Green TYR 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 IA, 203100 (3)

Green TYR 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 IA, MIM# 203100
  • Albinism, oculocutaneous, type IB, MIM# 606952

Green TYR in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism type 1 (MONDO:0018135)
  • Albinism, oculocutaneous, type IA, MIM#203100
  • Albinism, oculocutaneous, type IB, MIM#606952

Green TYR in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • oculocutaneous albinism type 1 MONDO:0018135

Green TYR in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism type 1 (MONDO:0018135)
  • Albinism, oculocutaneous, type IA, MIM#203100
  • Albinism, oculocutaneous, type IB, MIM#606952