Stroke
Gene: ADA2
Well established gene-disease association, ischaemic and hemorrhagic stroke reported.Created: 10 Mar 2021, 12:25 a.m. | Last Modified: 10 Mar 2021, 12:25 a.m.
Panel Version: 0.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Publications
Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis.
Sources: LiteratureCreated: 23 Jul 2020, 4:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency
Publications
Gene: ada2 has been classified as Green List (High Evidence).
Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Sneddon syndrome 182410 to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Publications for gene: ADA2 were set to
gene: ADA2 was added gene: ADA2 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA2 were set to Polyarteritis nodosa; Sneddon syndrome 182410