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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 5.13 Latest signed off version: v5.12 (12 Aug 2026)	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 4.13 Latest signed off version: v4.12 (12 Aug 2026)	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 4.1 Latest signed off version: v4.0 (12 Aug 2026)	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 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes OCULOCUTANEOUS ALBINISM TYPE 1
Green TYR in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) 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 11.9 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 9.17 Latest signed off version: v9.14 (12 Aug 2026)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red TYR in Structural eye disease Level 2: Ophthalmology Version 5.8 Latest signed off version: v5.7 (12 Aug 2026)	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