STAT1:Ensemblv115

signal transducer and activator of transcription 1
OMIM: 600555, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green STAT1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green STAT1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892
  • Childhood bronchiectasis

Green STAT1 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892
  • Childhood bronchiectasis

Green STAT1 in Mendelian susceptibility to Immune Disorders


Level 2: Immunological disorders
Version 1.0

1 review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship

Green STAT1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

2 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green

Green STAT1 in Susceptibility to Fungal Infections


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31C, autosomal dominant, MIM# 614162
  • Predisposition to Mucocutaneous Candidiasis

Green STAT1 in Susceptibility to Viral Infections


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796

Amber STAT1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599

Green STAT1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)

Green STAT1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
  • Immunodeficiency 31B MONDO:0013427

Green STAT1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
Tags
  • treatable
  • immunological