PanelApp (staging)
  1. Genes and Genomic Entities
  2. TEK

TEK

TEK receptor tyrosine kinase
OMIM: 600221, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TEK in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 3, primary congenital, E, MIM# 617272

Green TEK in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 3, primary congenital, E, MIM# 617272
  • Venous malformations, multiple cutaneous and mucosal, MIM# 600195

Green TEK in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Venous malformations, multiple cutaneous and mucosal 600195

    Green TEK in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Venous malformations, multiple cutaneous and mucosal (600195)
    • Blue rubber bleb naevus syndrome
    • Sporadic multifocal vascular malformations

    Amber TEK in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Venous malformations, multiple cutaneous and mucosal, 600195

    Red TEK in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Glaucoma 3, primary congenital, E (MIM#617272)
    • Venous malformations, multiple cutaneous and mucosal (MIM#600195)