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Craniosynostosis

Gene: STAT3

Amber List (moderate evidence)
STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Craniosynostosis is a rarely described feature of this condition.
Sources: Expert list
Created: 3 Jul 2020, 4:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyper-IgE recurrent infection syndrome, MIM# 147060

Publications

Created: 3 Jul 2020, 4:31 a.m.

Panel version: 0.116

History Filter Activity

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat3 has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat3 has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAT3 was added gene: STAT3 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 20159255 Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome, MIM# 147060 Review for gene: STAT3 was set to AMBER