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Cytopenias and congenital anaemias

Gene: ADA2

Green List (high evidence)

ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

changed MOI due to updating panels for GMS
Created: 22 Jul 2019, 3:53 p.m. | Last Modified: 22 Jul 2019, 3:53 p.m.
Panel Version: 1.71
Comment on list classification: Due to new publication PMID: 30503522 there is now enough evidence to rate this gene green
Created: 6 Mar 2019, 2:17 p.m.
CECR1 previous gene symbol for ADA2
Created: 7 Aug 2018, 10:57 a.m.
Comment on publications: http://www.bloodjournal.org/content/130/Suppl_1/874
Szvetnik, Enikoe Amina et al. Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2. Blood 130.Suppl 1 (2017): 874. Web. 07 Aug. 2018.
Created: 7 Aug 2018, 10:57 a.m.

Mary Alikian (Imperial College London)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DBA

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • DBA
  • Diamond-Blackfan Anemia
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ADA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

6 Mar 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619

6 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ada2 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619

7 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ada2 has been classified as Red List (Low Evidence).

7 Aug 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ADA2 were set to DBA; Diamond-Blackfan Anemia

7 Aug 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874

1 Aug 2018, Gel status: 0

Added New Source

Mary Alikian (Imperial College London)

ADA2 was added to Cytopaenias and congenital anaemias panel. Sources: Literature

1 Aug 2018, Gel status: 0

Created

Mary Alikian (Imperial College London)

ADA2 was created by Mary Alikian