Paediatric disorders - additional genes
Gene: STK4

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

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH

Phenotypes

T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations

OMIM

604965

Clinvar variants

Variants in STK4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: STK4 was added gene: STK4 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 22294732; 22174160 Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations

Paediatric disorders - additional genes Gene: STK4