TYR

tyrosinase
OMIM: 606933, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TYR in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470
Green TYR in Ocular and oculo-cutaneous albinism Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470
Red TYR in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green TYR in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470
Green TYR in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470
No list TYR in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Oculocutaneous albinism Tags curated_removed
Red TYR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes OCULOCUTANEOUS ALBINISM TYPE 1
Green TYR in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCULOCUTANEOUS ALBINISM TYPE 1 203100
Red TYR in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470
Red TYR in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red TYR in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470