1. Panels
  2. Autoimmune Lymphoproliferative Syndrome
  3. STAT3
STRs in panel
Prev Next
Regions in panel
Prev Next

Autoimmune Lymphoproliferative Syndrome

Gene: STAT3

Green List (high 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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:36228738;
Also known as STAT3 GoF syndrome, this review contains 191 patients with 72 unique variants
Sources: Literature
Created: 15 Jan 2025, 2:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jan 2025, 2:15 a.m.

Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952
  • STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
OMIM
102582
Clinvar variants
Variants in STAT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat3 has been classified as Green List (High Evidence).

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: stat3 has been classified as Green List (High Evidence).

15 Jan 2025, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: STAT3 was added gene: STAT3 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 36228738 Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Review for gene: STAT3 was set to GREEN gene: STAT3 was marked as current diagnostic