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  2. Childhood interstitial lung disease
  3. STAT5B
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Childhood interstitial lung disease

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 9 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

STAT5B has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #245590) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, 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 1, autosomal recessive, MONDO:0100211
OMIM
604260
Clinvar variants
Variants in STAT5B
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STAT5B was added gene: STAT5B was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211