TYR

tyrosinase
OMIM: 606933, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TYR in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type IA, MIM# 203100 MONDO:0008745 Albinism, oculocutaneous, type IB, MIM# 606952
Green TYR in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 1.8	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type IA, MIM# 203100
Green TYR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type IA, 203100 (3)
Green TYR in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Albinism, oculocutaneous 1
Green TYR in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Albinism, oculocutaneous, type IA, MIM# 203100 Albinism, oculocutaneous, type IB, MIM# 606952
Green TYR in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission 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 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes oculocutaneous albinism type 1 MONDO:0018135
Red TYR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Oculocutaneous albinism type 1 MIM## 203100, # 606952
Green TYR in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type IA, 203100 (3)