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Mendeliome

Gene: STAT4

Green List (high evidence)

STAT4 (signal transducer and activator of transcription 4)
EnsemblGeneIds (GRCh38): ENSG00000138378
EnsemblGeneIds (GRCh37): ENSG00000138378
OMIM: 600558, Gene2Phenotype
STAT4 is in 2 panels

2 reviews

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 3 Aug 2023, 2:32 a.m. | Last Modified: 3 Aug 2023, 2:38 a.m.
Panel Version: 1.1062

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Disabling pansclerotic morphea of childhood MIM#620443

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No evidence for Mendelian gene-disease association. May be associated with susceptibility to autoimmune conditions.
Created: 18 Nov 2019, 5:28 a.m. | Last Modified: 18 Nov 2019, 5:28 a.m.
Panel Version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disabling pansclerotic morphea of childhood MIM#620443
OMIM
600558
Clinvar variants
Variants in STAT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: STAT4 were set to

3 Aug 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: STAT4 were changed from to Disabling pansclerotic morphea of childhood MIM#620443

3 Aug 2023, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: STAT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: stat4 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat4 has been classified as Red List (Low Evidence).

18 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat4 has been classified as Red List (Low Evidence).

18 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAT4 was added gene: STAT4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STAT4 was set to Unknown