ADA2

adenosine deaminase 2
OMIM: 607575, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ADA2 in Vasculitis Level 2: Immunological disorders Version 0.82	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags founder
Green ADA2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags founder
Green ADA2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Green ADA2 in Common Variable Immunodeficiency Level 2: Immunological disorders Version 1.12 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 common variable immunodeficiency
Green ADA2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green ADA2 in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Red ADA2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688
Green ADA2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polyarteritis nodosa, childhood-onset, 615688 (3)
Green ADA2 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Amber ADA2 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Amber Phenotypes Sneddon syndrome 182410 Polyarteritis nodosa
Green ADA2 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Green ADA2 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Green ADA2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polyarteritis nodosa, childhood-onset, 615688 (3)
Green ADA2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags treatable immunological
Green ADA2 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of purine metabolism Deficiency of adenosine deaminase 2 MONDO:0100317