STK4:Ensemblv115

serine/threonine kinase 4
OMIM: 604965, ClinGen, DECIPHER

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green STK4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868 CD4/CD8 lymphopaenia cardiac malformations reduced naïve T cells increased TEM and TEMRA cells poor T cell Proliferation 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
Green STK4 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868 CD4/CD8 lymphopaenia cardiac malformations reduced naïve T cells increased TEM and TEMRA cells poor T cell Proliferation 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
Green STK4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 Tags treatable immunological