16 Apr 2024
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
16 Apr 2024
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
25 Oct 2022
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
22 Aug 2019
Undiagnosed metabolic disorders v1.261
ADA
Sarah Leigh Classified gene: ADA as Green List (high evidence)
22 Aug 2019
Undiagnosed metabolic disorders v1.261
ADA
Sarah Leigh Gene: ada has been classified as Green List (High Evidence).
22 Aug 2019
Undiagnosed metabolic disorders v1.260
ADA
Sarah Leigh Deleted their comment
22 Aug 2019
Undiagnosed metabolic disorders v1.260
ADA
Sarah Leigh Deleted their comment
22 Aug 2019
Undiagnosed metabolic disorders v1.260
ADA
Sarah Leigh Deleted their comment
22 Aug 2019
Undiagnosed metabolic disorders v1.260
ADA
Sarah Leigh Deleted their comment
22 Aug 2019
Undiagnosed metabolic disorders v1.260
ADA
Sarah Leigh Deleted their comment
22 Aug 2019
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
12 May 2018
Undiagnosed metabolic disorders
ADA
Ellen McDonagh commented on ADA
06 Mar 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh marked ADAR as ready
06 Mar 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh classified ADAR as green
06 Jan 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh edited their review of ADAR
06 Jan 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh edited their review of ADAR
06 Jan 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh edited their review of ADAR
06 Jan 2017
Undiagnosed metabolic disorders
ADA
Sarah Leigh edited their review of ADA
06 Jan 2017
Undiagnosed metabolic disorders
ADA
Sarah Leigh edited their review of ADA
06 Jan 2017
Undiagnosed metabolic disorders
ADA
Sarah Leigh edited their review of ADA
06 Jan 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh edited their review of ADAR
06 Jan 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh edited their review of ADAR
06 Jan 2017
Undiagnosed metabolic disorders
ADAR
Sarah Leigh reviewed ADAR
06 Jan 2017
Undiagnosed metabolic disorders
ADA
Sarah Leigh edited their review of ADA
06 Jan 2017
Undiagnosed metabolic disorders
ADA
Sarah Leigh edited their review of ADA
06 Jan 2017
Undiagnosed metabolic disorders
ADA
Sarah Leigh reviewed ADA