Rare genetic inflammatory skin disorders
Gene: ADA2Comment on phenotypes: Previous phenotypes:
VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROMECreated: 24 Mar 2021, 1:47 p.m. | Last Modified: 24 Mar 2021, 1:47 p.m.
Panel Version: 1.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME; VAIHS (Polyarteritis nodosa)
Publications
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
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
Added phenotypes VAIHS (Polyarteritis nodosa); VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME for gene: ADA2 Publications for gene ADA2 were changed from to 24552284
Source London North GLH was added to ADA2.
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