STK4 serine/threonine kinase 4

Gene info

Synonyms

mammalian sterile 20-like 1|yeast Ste20-like|kinase responsive to stress 2|hippo (Drosophila) homolog

Previous symbol

None

External ID

HGNC: 11408
Entrez Gene: 6789
Ensembl: ENSG00000101109
UCSC: uc002xnb.4
OMIM: 604965
UniProtKB: Q13043

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect

Extra Cardiac Phenotype

CD4/CD8 lymphopaenia, reduced naive T cells, increased TEM and TEMRA cells, poor T cell Proliferatio, reduced memory B cells, reduced IgM, increased IgG, IgA, IgE, impaired antibody responses, intermittent neutropaenia, bacterial/ viral/ fungal infections, autoimmune cytopaenias, mucocutaneous candidiasis, cutaneous warts

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1929004

Variant info

Clinvar

STK4

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. https://panelapp.agha.umccr.org/panels/76/gene/STK4/