Congenital Heart Defect
Gene: STK4EnsemblGeneIds (GRCh38): ENSG00000101109
EnsemblGeneIds (GRCh37): ENSG00000101109
OMIM: 604965, Gene2Phenotype
STK4 is in 5 panels
1 review
Danielle Ariti (University of Melbourne)
12 individuals from 5 unrelated families have been reported with STK4 deficiency; two mouse model.
Homozygous and compound heterozygous (deletion, missense and nonsense) variants have been identified, resulting in premature stop codons and reduced protein.
All individuals displayed a similar immunological phenotype, characterised by naive CD4+ and CD8+ T-cell lymphopaenia in particular. Other typical features included cardiac malformations, recurrent bacterial/viral infections, mucocutaneous candidiasis and cutaneous warts.
Sources: LiteratureCreated: 12 Aug 2021, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- 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
- OMIM
- 604965
- Clinvar variants
- Variants in STK4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stk4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stk4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: STK4 was added gene: STK4 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854 Phenotypes for gene: STK4 were set to 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 Review for gene: STK4 was set to GREEN