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STRs in panel
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Primary immunodeficiency

Gene: STAT4

Red List (low evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Only one kindred reported with a heterozygous variant in STAT4 associated with susceptibility to paracoccidioidomycosis. Additional cases needed to validate pathogenicity and therefore keeping rating Red.
Created: 7 Oct 2020, 1:16 p.m. | Last Modified: 7 Oct 2020, 1:16 p.m.
Panel Version: 2.200
- PMID: 29029192 (2017) - A heterozygous missense variant (c.1952 A>T, p.E651V) in STAT4 was identified in a female and her father, with a history of paracoccidioidomycosis. In vitro analysis using patient lymphocytes showed reduced STAT4 phosphorylation, nuclear translocation, and impaired IL-12–induced IFN-γ immunity.
Created: 7 Oct 2020, 1:13 p.m. | Last Modified: 7 Oct 2020, 1:13 p.m.
Panel Version: 2.199

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Boaz Palterer (University of Florence)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
Paracoccidioidomycosis; Impaired IFN-γ Immunity

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Potential risk allele for SLE. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Created: 27 Sep 2019, 2:54 p.m. | Last Modified: 27 Sep 2019, 2:54 p.m.
Panel Version: 1.132

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Paracoccidioidomycosis
  • Impaired IFN-γ Immunity
  • {Systemic lupus erythematosus, susceptibility to, 11}, 612253
OMIM
600558
Clinvar variants
Variants in STAT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: STAT4 were changed from {Systemic lupus erythematosus, susceptibility to, 11}, 612253 to Paracoccidioidomycosis; Impaired IFN-γ Immunity; {Systemic lupus erythematosus, susceptibility to, 11}, 612253

7 Oct 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: STAT4 were set to

7 Oct 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: STAT4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

27 Sep 2019, Gel status: 1

Added New Source, Added New Source, Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STAT4. Source Expert Review Red was added to STAT4. Source NHS GMS was added to STAT4. Rating Changed from No List (delete) to Red List (low evidence)

27 Sep 2019, Gel status: 0

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

Louise Daugherty (Genomics England Curator)

gene: STAT4 was added gene: STAT4 was added to Primary immunodeficiency. Sources: Mode of inheritance for gene: STAT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STAT4 were set to {Systemic lupus erythematosus, susceptibility to, 11}, 612253