Cytopenia - NOT Fanconi anaemia
Gene: ADA2

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

3 reviews

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
615688 Polyarteritis nodosa/Sneddon sydrome

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2019, 1:37 p.m.

Panel version: 0.10

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, 2:01 p.m. | Last Modified: 22 Jul 2019, 2:01 p.m.

Panel Version: 0.103

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615688 Polyarteritis nodosa/Sneddon sydrome; PMID(s): 24552284; 24552285; 25075847
Created: 8 Feb 2019, 1:43 p.m.

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, 3:13 p.m.

Created: 6 Feb 2019, 3:13 p.m.

Panel version: 0.11

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, 3:12 p.m.

Created: 6 Feb 2019, 3:12 p.m.

Panel version: 0.5

Details

Mode of Inheritance

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

OMIM

607575

Clinvar variants

Variants in ADA2

Penetrance

None

Publications

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; 615688 Polyarteritis nodosa/Sneddon sydrome to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410; Diamond-Blackfan Anemia

22 Jul 2019, Gel status: 3