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BabyScreen+ newborn screening

Gene: STAT1

Green List (high evidence)
STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The bi-allelic condition is generally severe, early onset; some fatalities reported. The mono allelic conditions are more variable.

Screen for bi-allelic only.
Created: 24 Mar 2023, 12:39 a.m. | Last Modified: 24 Mar 2023, 12:39 a.m.
Panel Version: 0.2070

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796

Created: 24 Mar 2023, 12:39 a.m.
Last Modified: 24 Mar 2023, 12:39 a.m.
Panel version: 0.2070

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

combined immunodeficiency
autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function.
gain of function mutations - treat rituxomab
complete - treat BMT
Sources: Expert list
Created: 23 Mar 2023, 11:10 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796

Publications

Created: 23 Mar 2023, 11:10 a.m.

Panel version: 0.2063

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
Tags
treatable immunological
OMIM
600555
Clinvar variants
Variants in STAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat1 has been classified as Green List (High Evidence).

24 Mar 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STAT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

24 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stat1 has been classified as Green List (High Evidence).

24 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: STAT1. Tag immunological tag was added to gene: STAT1.

23 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: STAT1 was added gene: STAT1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STAT1 were set to PMID: 31512162, PMID: 27117246 Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796 Review for gene: STAT1 was set to GREEN