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Mendeliome

Gene: LCK

Green List (high evidence)

LCK (LCK proto-oncogene, Src family tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000182866
EnsemblGeneIds (GRCh37): ENSG00000182866
OMIM: 153390, Gene2Phenotype
LCK is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional cases:
PMID 38100037: Description of a second unrelated patient with novel biallelic missense LCK c.1393T>C, p.C465R variant in a patient from a consanguineous Syrian family with profound T-cell immune deficiency characterized by complete LCK protein expression deficiency and ensuing proximal TCR signaling-and CD4 and CD8-co-receptor-mediated functional and phenotypical defects.

PMID: 27087313 reported 3 siblings of a consanguineous family presenting with recurrent pneumonia and severe viral skin disease leading to malignant transformation. The patients had an intronic LCK c.188-2A>G splice site variant resulting in skipping of exon 3 and mRNA decay. Clinical data alongside with CD4+ T-cell lymphocytopenia suggested a hypomorphic LCK deficiency.
Created: 19 Dec 2023, 1:39 a.m. | Last Modified: 19 Dec 2023, 1:39 a.m.
Panel Version: 1.1442
Only 1 individual with a LCK variant identified with associated CID phenotype caused by LCK-deficiency had been reported; homozygous missense variant (p.L341P) altering a highly conserved residue in the kinase domain. Multiple LCK-deficient mice models demonstrating pronounced thymic atrophy and dramatic loss of double positive (CD4+/CD8+) cells, consistent with Immunodeficiency 22 phenotype. Patient displayed features early in life consisting of failure to thrive, diarrhoea, recurrent respiratory infections and immunological profile of CD4+ T-cell Lymphopaenia, low expression levels of CD4/CD8 cells.
Created: 27 Jul 2021, 6:51 a.m. | Last Modified: 27 Jul 2021, 6:51 a.m.
Panel Version: 0.8533

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
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
OMIM
153390
Clinvar variants
Variants in LCK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lck has been classified as Green List (High Evidence).

27 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lck has been classified as Amber List (Moderate Evidence).

27 Jul 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LCK were changed from to 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

27 Jul 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LCK were set to

27 Jul 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lck has been classified as Amber List (Moderate Evidence).

27 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lck has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LCK was added gene: LCK was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LCK was set to Unknown