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Fetal anomalies

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants identified in 12 affected individuals from 5 unrelated families with two mouse model studies. Immunodeficiencyphenotype but cardiac malformations that are potentially detectable antenatally also a typical feature.
Sources: Literature, Expert list
Created: 20 Dec 2021, 4:20 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
  • Literature
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868
OMIM
604965
Clinvar variants
Variants in STK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, 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).

20 Dec 2021, 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).

20 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: STK4 was added gene: STK4 was added to Fetal anomalies. Sources: Literature,Expert list 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 Review for gene: STK4 was set to GREEN