IL6ST

interleukin 6 signal transducer
OMIM: 600694, ClinGen, DECIPHER

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber IL6ST in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523
Green IL6ST in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523 Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, MIM# 619752 Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750
Green IL6ST in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert list Phenotypes Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523 Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response Hyper-IgE syndrome, autosomal dominant
Red IL6ST in Autoinflammatory Disorders Level 2: Immunological disorders Version 2.3 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750