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BabyScreen+ newborn screening

Gene: STK4

Green List (high evidence)

STK4 (serine/threonine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000101109
EnsemblGeneIds (GRCh37): ENSG00000101109
OMIM: 604965, Gene2Phenotype
STK4 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can be fatal in infancy.
Created: 24 Mar 2023, 12:22 a.m. | Last Modified: 24 Mar 2023, 12:22 a.m.
Panel Version: 0.2068

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect

Rx bone marrow transplant
Sources: Expert list
Created: 23 Mar 2023, 10:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868

Publications

Details

Mode of Inheritance
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
OMIM
604965
Clinvar variants
Variants in STK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2024, Gel status: 3

Set Phenotypes

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 for gene: STK4

24 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stk4 has been classified as Green List (High Evidence).

24 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stk4 has been classified as Green List (High Evidence).

24 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: STK4. Tag immunological tag was added to gene: STK4.

23 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: STK4 was added gene: STK4 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to PMID: 22294732 Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 Review for gene: STK4 was set to GREEN