STK4

serine/threonine kinase 4
OMIM: 604965, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green STK4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services 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 Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868
Green STK4 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 Tags treatable immunological