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Rare genetic inflammatory skin disorders

Gene: ADA2

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Created: 24 Mar 2021, 1:47 p.m. | Last Modified: 24 Mar 2021, 1:47 p.m.
Panel Version: 1.8
Created: 24 Mar 2021, 1:47 p.m.
Last Modified: 24 Mar 2021, 1:47 p.m.
Panel version: 1.8

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME; VAIHS (Polyarteritis nodosa)

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CECR1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:02 p.m.

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

Created: 31 Jan 2019, 2:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes VAIHS (Polyarteritis nodosa); VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME for gene: ADA2 Publications for gene ADA2 were changed from to 24552284

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ADA2.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ADA2 was added gene: ADA2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA2 were set to Polyarteritis nodosa