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Growth failure
Gene: STAT5B

STAT5B (signal transducer and activator of transcription 5B)
EnsemblGeneIds (GRCh38): ENSG00000173757
EnsemblGeneIds (GRCh37): ENSG00000173757
OMIM: 604260, Gene2Phenotype
STAT5B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with each MOI.
Created: 15 Aug 2021, 2:42 a.m. | Last Modified: 15 Aug 2021, 2:42 a.m.

Panel Version: 0.99

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985

Publications

Created: 15 Aug 2021, 2:42 a.m.
Last Modified: 15 Aug 2021, 2:42 a.m.
Panel version: 0.99

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985

OMIM

Clinvar variants

Variants in STAT5B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat5b has been classified as Green List (High Evidence).

15 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985

15 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STAT5B were set to

15 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat5b has been classified as Green List (High Evidence).

19 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAT5B was added gene: STAT5B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal