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  2. IUGR and IGF abnormalities
  3. STAT5B
STRs in panel
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IUGR and IGF abnormalities

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: MOI has been updated from Biallelic to Both monoallelic and biallelic. PMID: 29844444 reported 11 patients from 3 unrelated families with GH insensitivity. Most patients presented in the first or second decades of life with short stature (down to -5.3 SD), delayed bone age, and delayed puberty associated with decreased IGF1 levels.
Created: 11 Oct 2021, 2:06 p.m. | Last Modified: 11 Oct 2021, 2:06 p.m.
Panel Version: 1.37
Created: 11 Oct 2021, 2:06 p.m.
Last Modified: 11 Oct 2021, 2:06 p.m.
Panel version: 1.37

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
OMIM
604260
Clinvar variants
Variants in STAT5B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: STAT5B were set to

11 Oct 2021, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for STAT5B was changed to BIALLELIC, autosomal or pseudoautosomal

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

STAT5B was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory