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

LCK

LCK proto-oncogene, Src family tyrosine kinase
OMIM: 153390, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green LCK in Mendeliome


Version 1.2304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 22 MIM# 615758
  • Recurrent infections
  • Immune dysregulation
  • autoimmunity
  • Low CD4+
  • low CD8+
  • restricted T cell repertoire
  • poor TCR signaling
  • Normal IgG/IgA
  • high IgM
  • failure to thrive
  • diarrhoea
  • lymphopaenia
  • hypogammaglobulinaemia
  • anaemia
  • thrombocytopaenia
  • CD4+ T-cell lymphopaenia

Green LCK in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 22 MIM# 615758
    • Recurrent infections
    • Immune dysregulation
    • autoimmunity
    • Low CD4+
    • low CD8+
    • restricted T cell repertoire
    • poor TCR signaling
    • Normal IgG/IgA
    • high IgM
    • failure to thrive
    • diarrhoea
    • lymphopenia
    • hypogammaglobulinemia
    • anaemia
    • thrombocytopaenia
    • CD4+ T-cell lymphopenia