Craniosynostosis
Gene: IL6STEnsemblGeneIds (GRCh38): ENSG00000134352
EnsemblGeneIds (GRCh37): ENSG00000134352
OMIM: 600694, Gene2Phenotype
IL6ST is in 4 panels
1 review
Yetong Chen (University of Melbourne)
PMID 32566365 describes a patient with homozygous IL6ST variants (p.R281Q) who had craniosynostosis. Abnormalities in nasofrontal sutures and reduced interdigitation of premaxillary sutures were seen in mouse models with homozygous R281Q variants in the IL6ST gene.
PMID 28747427 report a patient with homozygous IL6ST variants (p.N404Y) who had craniosynostosis.
Sources: Expert ReviewCreated: 17 May 2023, 11:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523
- OMIM
- 600694
- Clinvar variants
- Variants in IL6ST
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il6st has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il6st has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: IL6ST was added gene: IL6ST was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 32566365; 28747427 Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523 Review for gene: IL6ST was set to AMBER