Autoinflammatory Disorders
Gene: STAT4EnsemblGeneIds (GRCh38): ENSG00000138378
EnsemblGeneIds (GRCh37): ENSG00000138378
OMIM: 600558, Gene2Phenotype
STAT4 is in 2 panels
1 review
Melanie Marty (Victorian Clinical Genetics Services)
Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. These variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.
Sources: LiteratureCreated: 3 Aug 2023, 2:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Disabling pansclerotic morphea of childhood MIM#620443
Publications
- PMID: 37256972
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disabling pansclerotic morphea of childhood MIM#620443
- OMIM
- 600558
- Clinvar variants
- Variants in STAT4
- Penetrance
- None
- Publications
-
- PMID: 37256972
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: stat4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: stat4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: stat4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: stat4 has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Melanie Marty (Victorian Clinical Genetics Services)gene: STAT4 was added gene: STAT4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: STAT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT4 were set to PMID: 37256972 Phenotypes for gene: STAT4 were set to Disabling pansclerotic morphea of childhood MIM#620443 Mode of pathogenicity for gene: STAT4 was set to Other Review for gene: STAT4 was set to GREEN