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  3. STAT5B
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: STAT5B

Green List (high evidence)
STAT5B (signal transducer and activator of transcription 5B)
EnsemblGeneIds (GRCh38): ENSG00000173757
EnsemblGeneIds (GRCh37): ENSG00000173757
OMIM: 604260, Gene2Phenotype
STAT5B is in 8 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
Phenotypes
  • Growth hormone insensitivity with immunodeficiency, MIM#245590
OMIM
604260
Clinvar variants
Variants in STAT5B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: STAT5B was added gene: STAT5B was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STAT5B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STAT5B were set to 29844444 Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immunodeficiency, MIM#245590 Mode of pathogenicity for gene: STAT5B was set to Other