TYR

tyrosinase
OMIM: 606933, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green TYR in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type IA
  • Albinism, oculocutaneous, type IB
  • Waardenburg syndrome/albinism, digenic

Green TYR in Ocular and oculo-cutaneous albinism


Version 1.21

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type IA
  • Albinism, oculocutaneous, type IB
  • Waardenburg syndrome/albinism, digenic

Red TYR in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green TYR in Pigmentary skin disorders


Version 1.9
Latest signed off version: v1.4 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ALBINISM, OCULOCUTANEOUS, TYPE IA
  • Oculocutaneous albinism
  • OCA1B
  • OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB

Green TYR in Albinism or congenital nystagmus


Version 1.19
Latest signed off version: v1.18 (4 Aug 2021)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type IA
  • Waardenburg syndrome/albinism, digenic
  • Albinism, oculocutaneous, type IB
  • Oculocutaneous Albinism

No list TYR in Mosaic skin disorders - deep sequencing


Version 1.5
Latest signed off version: v1.3 (15 Oct 2020)

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


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OCULOCUTANEOUS ALBINISM TYPE 1

Green TYR in DDG2P


Version 2.21
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Albinism, oculocutaneous, type IA, 203100
    • Waardenburg
    • syndrome/albinism, digenic, 103470
    • Albinism, oculocutaneous, type IB, 606952
    • [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800
    • {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800
    • [Skin/hair/eye pigmentation 3, blue/green eyes], 601800

    Red TYR in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Red TYR in Structural eye disease


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • [Skin/hair/eye pigmentation 3, blue/green eyes]
    • Albinism, oculocutaneous, type IB, 606952
    • Eye Disorders
    • Waardenburg syndrome/albinism, digenic, 103470
    • [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800
    • Albinism, oculocutaneous, type IA, 203100
    • {Melanoma, cutaneous malignant, susceptibility to, 8}

    Green TYR in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Albinism, oculocutaneous, type IA, 203100
    • Albinism, oculocutaneous, type IB, 606952
    • Waardenburg syndrome/albinism, digenic, 103470