PanelApp (stage)
  1. Genes and Genomic Entities
  2. BLK

BLK

BLK proto-oncogene, Src family tyrosine kinase
OMIM: 191305, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber BLK in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Common variable immunodeficiency, MONDO:0015517

Amber BLK in Common Variable Immunodeficiency


Level 2: Immunological disorders
Version 1.12

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • common variable immunodeficiency

    Red BLK in Maturity-onset Diabetes of the Young


    Level 2: Endocrine disorders
    Version 1.21

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Maturity-onset diabetes of the young, type 11 MIM#613375
    Tags
    • refuted

    Red BLK in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Royal Melbourne Hospital
    Phenotypes
    • Maturity-onset diabetes of the young, type 11, 613375
    • Maturity Onset Diabetes of the Young