ADA2

adenosine deaminase 2
OMIM: 607575, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green ADA2 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
  • Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
  • Autoinflammatory Disorders
Amber ADA2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Sneddon syndrome, OMIM:182410
  • Polyarteritis nodosa, MONDO:0019170
Green ADA2 in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Green ADA2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
  • Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
  • Autoinflammatory Disorders
Green ADA2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
  • Sneddon syndrome, OMIM:182410
  • Diamond-Blackfan Anemia
Green ADA2 in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
  • Sneddon syndrome, OMIM:182410
  • Diamond-Blackfan Anemia
Green ADA2 in Cytopenia - NOT Fanconi anaemia


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
  • Sneddon syndrome, OMIM:182410
  • Diamond-Blackfan Anemia
Green ADA2 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
  • Sneddon syndrome, OMIM:182410
Green ADA2 in Autoinflammatory disorders

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688