Autoimmune Lymphoproliferative Syndrome
Gene: ADA2EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 16 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID:39060684; 1x individual hom for Gly358Arg. 4x path in clinvar
PMID:29271561; 1x individual hom for c.882-2A>G. 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2
PMID:34721429; 2 sibs Chet for Leu188Phe and Thr187Pro and both had complete absence of inosine, an adenosine-derived product.
Leu188Phe is absent in gnomad v4 and clinvar. high conservation + 0.9 REVEL
Thr187Pro 1 het 0 homs in v4 and 1x clinvar citing this paper high conservation + 0.7 REVEL
PMID:30692987 ; 1x Chet Tyr456Cys and Trp399*. The missense 1x LP in clinvar by Invitae and 2 hets 0 homs in v4. high conservation + REVEL 0.7
Sources: LiteratureCreated: 15 Jan 2025, 12:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
- OMIM
- 607575
- Clinvar variants
- Variants in ADA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Nucleotide metabolism disorders
- Prepair 1000+
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Disorders of immune dysregulation
- Autoimmune Lymphoproliferative Syndrome
- Mendeliome
- IBMDx study
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ada2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ada2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: ADA2 was added gene: ADA2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 39060684; 29271561; 30692987; 34721429 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 Review for gene: ADA2 was set to GREEN gene: ADA2 was marked as current diagnostic