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Rare anaemia

Gene: ADA2

Green List (high evidence)
ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 3:31 p.m. | Last Modified: 22 Jul 2019, 3:31 p.m.
Panel Version: 0.51
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: not submitted ; Phenotypes: Diamond Blackfan anaemia; PMID(s): none submitted
Created: 6 Feb 2019, 12:14 p.m.
Created: 6 Feb 2019, 12:14 p.m.

Panel version: 0.6

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 12:13 p.m.
Created: 6 Feb 2019, 12:13 p.m.

Panel version: 0.5

Details

Mode of Inheritance
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
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
None
Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ADA2 were changed from Diamond Blackfan anaemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410; Diamond-Blackfan Anemia

22 Jul 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal

22 Jul 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).

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADA2.

6 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ADA2. Added phenotypes Diamond Blackfan anaemia for gene: ADA2 Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ADA2 was added gene: ADA2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADA2 was set to