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  3. STK4
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Fetal anomalies

Gene: STK4

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Red List (low evidence)

Not enough evidence (if any) for association with congenital heart disease
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868
OMIM
604965
Clinvar variants
Variants in STK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STK4 was added gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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, OMIM:614868