STAT5B

signal transducer and activator of transcription 5B
OMIM: 604260, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green STAT5B in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory
Green STAT5B in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2029 IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 T-B+ SCID Combined immunodeficiency Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity Combined immunodeficiencies with associated or syndromic features
Green STAT5B in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 T-B+ SCID Combined immunodeficiency Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity Combined immunodeficiencies with associated or syndromic features
Amber STAT5B in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
No list STAT5B in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green STAT5B in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590
Red STAT5B in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
Green STAT5B in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985