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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:11408
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
OMIM
604965
Clinvar variants
Variants in STK4
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to STK4. Added phenotypes STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations for gene: STK4 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to STK4. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: STK4 was added gene: STK4 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal