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Undiagnosed metabolic disorders v1.617 ADA Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Adenosine deaminase deficiency (Disorders of purine metabolism);Combined B and T cell defect;Infantile enterocolitis & monogenic inflammatory bowel disease;SCID
Undiagnosed metabolic disorders v1.617 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency (Disorders of purine metabolism); Combined B and T cell defect; Infantile enterocolitis & monogenic inflammatory bowel disease; SCID to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Undiagnosed metabolic disorders v1.565 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 615010; Dyschromatosis symmetrica hereditaria 127400 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
Undiagnosed metabolic disorders v1.261 ADA Sarah Leigh Classified gene: ADA as Green List (high evidence)
Undiagnosed metabolic disorders v1.261 ADA Sarah Leigh Gene: ada has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.256 ADA Sarah Leigh edited their review of gene: ADA: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 30 variants reported associated with Adenosine deaminase deficiency.; Changed rating: GREEN; Changed publications: 27604308, 3684597, 2783588, 1680289; Changed phenotypes: Adenosine deaminase deficiency, partial 102700, Severe combined immunodeficiency due to ADA deficiency 102700, Combined B and T cell defect, SCID, Infantile enterocolitis & monogenic inflammatory bowel disease
Undiagnosed metabolic disorders ADA Ellen McDonagh commented on ADA
Undiagnosed metabolic disorders ADAR Sarah Leigh marked ADAR as ready
Undiagnosed metabolic disorders ADAR Sarah Leigh classified ADAR as green
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh reviewed ADAR
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh reviewed ADA