Disorders of immune dysregulation
Gene: JAK1
PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.Created: 29 Apr 2024, 7:46 a.m. | Last Modified: 29 Apr 2024, 7:46 a.m.
Panel Version: 0.185
Single family reported (mother and two children) with GoF variant.
Sources: Expert listCreated: 5 Apr 2020, 3:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999; Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Publications
Mode of pathogenicity
Other
Gene: jak1 has been classified as Green List (High Evidence).
Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Gene: jak1 has been classified as Red List (Low Evidence).
gene: JAK1 was added gene: JAK1 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAK1 were set to 28111307 Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections Mode of pathogenicity for gene: JAK1 was set to Other Review for gene: JAK1 was set to RED