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Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.4 ITGAV Zornitza Stark gene: ITGAV was added
gene: ITGAV was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related
Review for gene: ITGAV was set to AMBER
Added comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Disorders of immune dysregulation v1.3 P2RY8 Zornitza Stark Marked gene: P2RY8 as ready
Disorders of immune dysregulation v1.3 P2RY8 Zornitza Stark Gene: p2ry8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.3 P2RY8 Zornitza Stark Phenotypes for gene: P2RY8 were changed from systemic lupus erythematosis; vasculitis; nephritis to Systemic lupus erythematosus, MONDO:0007915, P2RY8-related
Disorders of immune dysregulation v1.2 P2RY8 Zornitza Stark Classified gene: P2RY8 as Amber List (moderate evidence)
Disorders of immune dysregulation v1.2 P2RY8 Zornitza Stark Gene: p2ry8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.1 P2RY8 Zornitza Stark edited their review of gene: P2RY8: Changed phenotypes: Systemic lupus erythematosus, MONDO:0007915, P2RY8-related
Disorders of immune dysregulation v1.1 P2RY8 Zornitza Stark reviewed gene: P2RY8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Disorders of immune dysregulation v1.1 PACSIN1 Zornitza Stark Marked gene: PACSIN1 as ready
Disorders of immune dysregulation v1.1 PACSIN1 Zornitza Stark Gene: pacsin1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v1.1 PACSIN1 Zornitza Stark Classified gene: PACSIN1 as Red List (low evidence)
Disorders of immune dysregulation v1.1 PACSIN1 Zornitza Stark Gene: pacsin1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v1.0 PACSIN1 Zornitza Stark reviewed gene: PACSIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Disorders of immune dysregulation v1.0 PACSIN1 Natasha Brown gene: PACSIN1 was added
gene: PACSIN1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: PACSIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACSIN1 were set to 36622335
Phenotypes for gene: PACSIN1 were set to systemic lupus erythematosis; vasculitis; nephritis
Penetrance for gene: PACSIN1 were set to unknown
Review for gene: PACSIN1 was set to AMBER
Added comment: PMID: 36622335
One patient denovo novel missense Q59K, severe infantile SLE, with functional validation
Results: We established that PACSIN1 forms a trimolecular complex with tumor necrosis factor receptor-associated factor 4 (TRAF4) and TRAF6 that is important for the regulation of type I IFN. The Q59K mutation in PACSIN1 augments binding to neural Wiskott-Aldrich syndrome protein while it decreases binding to TRAF4, leading to unrestrained TRAF6-mediated activation of type I IFN. Intriguingly, PACSIN1 Q59K increased TLR-7 but not TLR-9 signaling in human cells, leading to elevated expression of IFNβ and IFN-inducible genes. Untreated SLE patients had high PACSIN1 expression in peripheral blood cells that correlated positively with IFN-related genes. Introduction of the Pacsin1 Q59K mutation into mice caused increased surface TLR-7 and TRAIL expression in B cells
Sources: Literature
Disorders of immune dysregulation v1.0 P2RY8 Natasha Brown gene: P2RY8 was added
gene: P2RY8 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: P2RY8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P2RY8 were set to 34889940
Phenotypes for gene: P2RY8 were set to systemic lupus erythematosis; vasculitis; nephritis
Penetrance for gene: P2RY8 were set to unknown
Review for gene: P2RY8 was set to GREEN
Added comment: PMID: 34889940
Six unrelated pts, rare/ultra rare missense variants with some functional validation
denovo (p.Leu257Phe) x1
N97K (c.291C>G;) x1, inheritance unknown

E323G (c.968A>G), in six unrelated SLE patients, all of Chinese ethnicity (note there are several entries in Gnomad for this variant in the SE Asian community) - incomplete penetrance

P2RY8 L257F and N97K variants show reduced inhibition of
AKT and ERK
Sources: Literature
Disorders of immune dysregulation v1.0 Bryony Thompson promoted panel to version 1.0
Disorders of immune dysregulation v0.216 TNFSF9 Bryony Thompson Marked gene: TNFSF9 as ready
Disorders of immune dysregulation v0.216 TNFSF9 Bryony Thompson Gene: tnfsf9 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.215 TNFSF9 Bryony Thompson gene: TNFSF9 was added
gene: TNFSF9 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF9 were set to 35657354
Phenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related
Disorders of immune dysregulation v0.214 NFATC2 Bryony Thompson Marked gene: NFATC2 as ready
Disorders of immune dysregulation v0.214 NFATC2 Bryony Thompson Gene: nfatc2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.214 NFATC2 Bryony Thompson Classified gene: NFATC2 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.214 NFATC2 Bryony Thompson Gene: nfatc2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.213 NFATC2 Bryony Thompson gene: NFATC2 was added
gene: NFATC2 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFATC2 were set to 35789258; 38427060
Phenotypes for gene: NFATC2 were set to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related
Review for gene: NFATC2 was set to AMBER
Added comment: 2 consanguineous families are reported with homozygous variants (a frameshift & an in-frame deletion). Both families have a lymphoproliferative disorder and one family also had soft tissue and cartilage abnormalities. IUIS IEI committee classify NFATC2-deficiency as a disease of immune dysregulation.
Sources: Expert list
Disorders of immune dysregulation v0.212 LACC1 Bryony Thompson Marked gene: LACC1 as ready
Disorders of immune dysregulation v0.212 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.212 LACC1 Bryony Thompson Classified gene: LACC1 as Green List (high evidence)
Disorders of immune dysregulation v0.212 LACC1 Bryony Thompson Added comment: Comment on list classification: IUIS IEI classifies LACC1-deficiency as a disease of immune dysregulation
Disorders of immune dysregulation v0.212 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.210 LACC1 Bryony Thompson gene: LACC1 was added
gene: LACC1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577
Phenotypes for gene: LACC1 were set to juvenile arthritis due to defect in LACC1 MONDO:0032920
Disorders of immune dysregulation v0.209 IL27RA Bryony Thompson Marked gene: IL27RA as ready
Disorders of immune dysregulation v0.209 IL27RA Bryony Thompson Gene: il27ra has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.209 IL27RA Bryony Thompson Classified gene: IL27RA as Amber List (moderate evidence)
Disorders of immune dysregulation v0.209 IL27RA Bryony Thompson Gene: il27ra has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.208 IL27RA Bryony Thompson gene: IL27RA was added
gene: IL27RA was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL27RA were set to 38509369
Phenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Review for gene: IL27RA was set to AMBER
Added comment: 2 families reported. IL27RA-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Susceptibility to EBV and Lymphoproliferative Conditions subcategory.
Sources: Expert list
Disorders of immune dysregulation v0.207 GIMAP5 Bryony Thompson Marked gene: GIMAP5 as ready
Disorders of immune dysregulation v0.207 GIMAP5 Bryony Thompson Gene: gimap5 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.207 GIMAP5 Bryony Thompson Classified gene: GIMAP5 as Green List (high evidence)
Disorders of immune dysregulation v0.207 GIMAP5 Bryony Thompson Gene: gimap5 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.206 GIMAP5 Bryony Thompson gene: GIMAP5 was added
gene: GIMAP5 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIMAP5 were set to 33956074
Phenotypes for gene: GIMAP5 were set to portal hypertension, noncirrhotic, 2 MONDO:0030397
Review for gene: GIMAP5 was set to GREEN
gene: GIMAP5 was marked as current diagnostic
Added comment: At least 4 families reported. GIMAP5-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Autoimmunity with or without Lymphoproliferation subcategory.
Sources: Expert list
Disorders of immune dysregulation v0.205 FERMT1 Bryony Thompson Marked gene: FERMT1 as ready
Disorders of immune dysregulation v0.205 FERMT1 Bryony Thompson Gene: fermt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.205 FERMT1 Bryony Thompson Classified gene: FERMT1 as Green List (high evidence)
Disorders of immune dysregulation v0.205 FERMT1 Bryony Thompson Gene: fermt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.204 FERMT1 Bryony Thompson gene: FERMT1 was added
gene: FERMT1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT1 were set to 34512655
Phenotypes for gene: FERMT1 were set to Kindler syndrome MONDO:0008260
Review for gene: FERMT1 was set to GREEN
gene: FERMT1 was marked as current diagnostic
Added comment: The IUIS IEI committee classifies FERMT1 deficiency (aka Kindler syndrome) as a disease of immune dysregulation under the Regulatory T Cell Defects subcategory.
Sources: Expert list
Disorders of immune dysregulation v0.203 FAAP24 Bryony Thompson Classified gene: FAAP24 as Red List (low evidence)
Disorders of immune dysregulation v0.203 FAAP24 Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease association by the Primary Immune Regulatory Disorders GCEP (https://search.clinicalgenome.org/CCID:008245).
Disorders of immune dysregulation v0.203 FAAP24 Bryony Thompson Gene: faap24 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.202 ERN1 Bryony Thompson Marked gene: ERN1 as ready
Disorders of immune dysregulation v0.202 ERN1 Bryony Thompson Gene: ern1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.202 ERN1 Bryony Thompson gene: ERN1 was added
gene: ERN1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ERN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ERN1 were set to Immune dysregulation
Review for gene: ERN1 was set to RED
Added comment: On the IUIS 2024 update for IEIs as a gene associated with an AD disease of immune dysregulation, I cannot find any evidence of Mendelian disease.
Sources: Expert list
Disorders of immune dysregulation v0.201 DPP9 Bryony Thompson Marked gene: DPP9 as ready
Disorders of immune dysregulation v0.201 DPP9 Bryony Thompson Gene: dpp9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.201 DPP9 Bryony Thompson Classified gene: DPP9 as Green List (high evidence)
Disorders of immune dysregulation v0.201 DPP9 Bryony Thompson Gene: dpp9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.200 DPP9 Bryony Thompson gene: DPP9 was added
gene: DPP9 was added to Disorders of immune dysregulation. Sources: Expert Review
Mode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPP9 were set to 36112693
Phenotypes for gene: DPP9 were set to hatipoglu immunodeficiency syndrome MONDO:0957229
Review for gene: DPP9 was set to GREEN
gene: DPP9 was marked as current diagnostic
Added comment: 3 unrelated families and supporting null mouse model. IUIS IEI committee assign the condition to diseases of immune dysregulation in the subcategory of Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes).
Sources: Expert Review
Disorders of immune dysregulation v0.199 ARPC5 Bryony Thompson Marked gene: ARPC5 as ready
Disorders of immune dysregulation v0.199 ARPC5 Bryony Thompson Gene: arpc5 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.199 ARPC5 Bryony Thompson Classified gene: ARPC5 as Green List (high evidence)
Disorders of immune dysregulation v0.199 ARPC5 Bryony Thompson Gene: arpc5 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.198 ARPC5 Bryony Thompson gene: ARPC5 was added
gene: ARPC5 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC5 were set to 37382373; 37349293
Phenotypes for gene: ARPC5 were set to Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565
Review for gene: ARPC5 was set to GREEN
gene: ARPC5 was marked as current diagnostic
Added comment: 3 unrelated consanguineous families with homozygous variants and supporting in vitro functional assays. Immune dysregulation is a prominent feature of the condition. The IUIS IEI committee classify it as a disease of immune dysregulation in the subcategory of autoimmunity with or without lymphoproliferation.
Sources: Expert list
Disorders of immune dysregulation v0.197 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004
Disorders of immune dysregulation v0.196 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778 to Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004
Disorders of immune dysregulation v0.195 ATG9A Bryony Thompson Marked gene: ATG9A as ready
Disorders of immune dysregulation v0.195 ATG9A Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.195 ATG9A Bryony Thompson gene: ATG9A was added
gene: ATG9A was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG9A were set to 35838483
Phenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia
Review for gene: ATG9A was set to RED
Added comment: A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays.
Sources: Literature
Disorders of immune dysregulation v0.194 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Disorders of immune dysregulation v0.194 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.194 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from SLE, chilblain lupus to Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
Disorders of immune dysregulation v0.193 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Green List (high evidence)
Disorders of immune dysregulation v0.193 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.192 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.192 CD274 Zornitza Stark Marked gene: CD274 as ready
Disorders of immune dysregulation v0.192 CD274 Zornitza Stark Gene: cd274 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.192 CD274 Zornitza Stark Phenotypes for gene: CD274 were changed from Immune dysregulation to Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790
Disorders of immune dysregulation v0.191 CD274 Zornitza Stark Classified gene: CD274 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.191 CD274 Zornitza Stark Gene: cd274 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.190 CD274 Zornitza Stark reviewed gene: CD274: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.190 SH2B3 Zornitza Stark Marked gene: SH2B3 as ready
Disorders of immune dysregulation v0.190 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.190 SH2B3 Zornitza Stark Phenotypes for gene: SH2B3 were changed from Immune to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related
Disorders of immune dysregulation v0.189 SH2B3 Zornitza Stark Classified gene: SH2B3 as Green List (high evidence)
Disorders of immune dysregulation v0.189 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.188 SH2B3 Zornitza Stark reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Predisposition to haematological malignancies, Myeloproliferation and multi-organ autoimmunity, juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.188 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Disorders of immune dysregulation v0.188 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.188 NBEAL2 Zornitza Stark Phenotypes for gene: NBEAL2 were changed from Immune dysregulation to Gray platelet syndrome, MIM# 139090; Immune dysregulation
Disorders of immune dysregulation v0.187 NBEAL2 Zornitza Stark Classified gene: NBEAL2 as Green List (high evidence)
Disorders of immune dysregulation v0.187 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.186 NBEAL2 Zornitza Stark reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.186 NBEAL2 Peter McNaughton gene: NBEAL2 was added
gene: NBEAL2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBEAL2 were set to PMID: 37349339
Phenotypes for gene: NBEAL2 were set to Immune dysregulation
Review for gene: NBEAL2 was set to GREEN
Added comment: Patients with NBEAL2 deficiency present with ALPS-like disease with autoimmune manifestations including Evans syndrome, chill blain lupus, autoimmune thyroiditis, and/or antiplatelet autoantibodies. Functional data demonstrating that NBEAL2 affects CTLA4 expression regulation.
Sources: Literature
Disorders of immune dysregulation v0.186 SH2B3 Peter McNaughton gene: SH2B3 was added
gene: SH2B3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SH2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH2B3 were set to PMID: 37206266
Phenotypes for gene: SH2B3 were set to Immune
Review for gene: SH2B3 was set to GREEN
Added comment: 2x unrelated patients with haematopoietic manifestations with predominantly myeloproliferative features. Both patients developed clinically significant extra‐haematopoietic multi‐organ autoimmune manifestations throughout life including autoimmune hypothyroidism, autoimmune hepatitis, alopecia areata and autoimmune diabetes mellitus.
Sources: Literature
Disorders of immune dysregulation v0.186 CD274 Peter McNaughton gene: CD274 was added
gene: CD274 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD274 were set to PMID: 38634869
Phenotypes for gene: CD274 were set to Immune dysregulation
Review for gene: CD274 was set to AMBER
Added comment: Two siblings, born to second-degree consanguineous parents of Moroccan descent,
both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By
contrast, his sister had no clinical manifestations other than T1D.
Sources: Literature
Disorders of immune dysregulation v0.186 UNC93B1 Peter McNaughton gene: UNC93B1 was added
gene: UNC93B1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: UNC93B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC93B1 were set to PMID: 38869500
Phenotypes for gene: UNC93B1 were set to SLE, chilblain lupus
Mode of pathogenicity for gene: UNC93B1 was set to Other
Review for gene: UNC93B1 was set to GREEN
Added comment: Rare missense substitutions in UNC93B1 in probands from five unrelated kindreds presenting with early onset SLE (two probands) or CBL (three probands). Clinical, genetic, and functional in vitro and ex vivo data demonstrating changes in TLR7/8 signalling and trafficking.
Sources: Literature
Disorders of immune dysregulation v0.186 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.186 JAK1 Zornitza Stark Classified gene: JAK1 as Green List (high evidence)
Disorders of immune dysregulation v0.186 JAK1 Zornitza Stark Gene: jak1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.185 JAK1 Zornitza Stark edited their review of gene: JAK1: Added comment: PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.; Changed rating: GREEN; Changed phenotypes: Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999, Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Disorders of immune dysregulation v0.185 ELF4 Zornitza Stark Marked gene: ELF4 as ready
Disorders of immune dysregulation v0.185 ELF4 Zornitza Stark Gene: elf4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.185 ELF4 Zornitza Stark Classified gene: ELF4 as Green List (high evidence)
Disorders of immune dysregulation v0.185 ELF4 Zornitza Stark Gene: elf4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.184 ELF4 Sangavi Sivagnanasundram gene: ELF4 was added
gene: ELF4 was added to Disorders of immune dysregulation. Sources: Other
Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ELF4 were set to 34326534, 35266071; 35748970
Phenotypes for gene: ELF4 were set to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
Review for gene: ELF4 was set to GREEN
Added comment: Reviewed according to PMID: 35748970

AIFBL2 is characterised by the onset of inflammatory symptoms in the first decade of life in males. Typically present with oral mucosal ulceration and skin inflammation however can present with decreased NK cells and low memory B cells.
Individuals typical have normal levels of serum IgM, G, A but reduced responses to live viral vaccines

Hemizygous mutations reported in at least 3 unrelated affected males with an autoinflammatory condition
Sources: Other
Disorders of immune dysregulation v0.184 MADD Zornitza Stark Marked gene: MADD as ready
Disorders of immune dysregulation v0.184 MADD Zornitza Stark Gene: madd has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.184 MADD Zornitza Stark Classified gene: MADD as Amber List (moderate evidence)
Disorders of immune dysregulation v0.184 MADD Zornitza Stark Gene: madd has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.183 MADD Peter McNaughton gene: MADD was added
gene: MADD was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to PMID: 36206192
Phenotypes for gene: MADD were set to HLH, enteropathy
Review for gene: MADD was set to AMBER
Added comment: 2-month-old female infant born to consanguineous parents was admitted with complex syndromic features of dystrophy, endocrinological dysfunction, and developmental delay developed partial features of HLH with a postnatally acquired cytomegalovirus infection and a persistent secretory enteropathy. Her brother with similar symptoms had died at 2 years of life. Severe degranulation defect of resting and IL-2–stimulated NK and cytotoxic T lymphocytes (CTLs) was detected. MADD knockout cell line showed same defect.
Another patient displayed reduced degranulation of cytotoxic cells (patient 2 PMID: 32761064)
Sources: Literature
Disorders of immune dysregulation v0.183 FAAP24 Zornitza Stark Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Disorders of immune dysregulation v0.182 FAAP24 Zornitza Stark edited their review of gene: FAAP24: Changed phenotypes: Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Disorders of immune dysregulation v0.182 STAT6 Zornitza Stark Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Disorders of immune dysregulation v0.181 STAT6 Zornitza Stark Publications for gene: STAT6 were set to PMID: 36216080
Disorders of immune dysregulation v0.180 STAT6 Zornitza Stark reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.180 PLCG1 Zornitza Stark Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Green List (high evidence)
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.178 COL4A3BP Zornitza Stark Tag new gene name tag was added to gene: COL4A3BP.
Disorders of immune dysregulation v0.178 COL4A3BP Ee Ming Wong gene: COL4A3BP was added
gene: COL4A3BP was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3BP were set to PMID: 36976648
Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)
Mode of pathogenicity for gene: COL4A3BP was set to Other
Review for gene: COL4A3BP was set to GREEN
gene: COL4A3BP was marked as current diagnostic
Added comment: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Disorders of immune dysregulation v0.178 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Disorders of immune dysregulation v0.178 PLCG1 Zornitza Stark Marked gene: PLCG1 as ready
Disorders of immune dysregulation v0.178 PLCG1 Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.178 PLCG1 Zornitza Stark Phenotypes for gene: PLCG1 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation
Disorders of immune dysregulation v0.177 PLCG1 Zornitza Stark Classified gene: PLCG1 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.177 PLCG1 Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.176 PLCG1 Peter McNaughton gene: PLCG1 was added
gene: PLCG1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG1 were set to PMID: 37422272
Phenotypes for gene: PLCG1 were set to Immune dysregulation
Mode of pathogenicity for gene: PLCG1 was set to Other
Review for gene: PLCG1 was set to AMBER
Added comment: Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease
Sources: Literature
Disorders of immune dysregulation v0.176 DOCK11 Zornitza Stark Phenotypes for gene: DOCK11 were changed from autoimmune disease MONDO:0007179, DOCK11-related to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
Disorders of immune dysregulation v0.175 CBLB Zornitza Stark Phenotypes for gene: CBLB were changed from Autoimmune disease, MONDO:0007179 to Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430
Disorders of immune dysregulation v0.174 LYN Zornitza Stark Marked gene: LYN as ready
Disorders of immune dysregulation v0.174 LYN Zornitza Stark Gene: lyn has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.174 LYN Zornitza Stark Classified gene: LYN as Green List (high evidence)
Disorders of immune dysregulation v0.174 LYN Zornitza Stark Gene: lyn has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.173 LYN Zornitza Stark gene: LYN was added
gene: LYN was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: LYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LYN were set to 36932076; 36122175
Phenotypes for gene: LYN were set to Autoinflammatory disease, systemic, with vasculitis, MIM# 620376
Review for gene: LYN was set to GREEN
Added comment: Three unrelated individuals from described with three distinct de novo variants in LYN, p.Y508*, p.Q507* and a missense variant, p.Y508F. The PTC variants do not cause NMD, and all three variants have been shown to result in constitutively active LYN kinase by preventing inhibitory phosphorylation of the Y508 regulatory tyrosine. Extensive functional data to confirm gain-of-function effect was presented. Patient presented perinatally with immunological symptoms, including diffuse purpuric skin lesions, fever, and increased C-reactive protein (CRP). mild anemia, mild leukocytosis, moderate to severe thrombocytopenia. The patients with PTC were more severe, developing liver fibrosis and signs of cirrhosis. All three patients responded to various degrees to treatment with src kinase inhibitors, dasatinib, etanercept and/or colchicine. Authors named the condition Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI). A fourth patient with a Tyr508His has also been described and presented with since birth with recurrent fever, chronic urticaria, atopic dermatitis, arthralgia, increased inflammatory biomarkers, and elevated plasma cytokine levels. Other features not consistent with LYN disease were attributed to prematurity (following maternal HELLP syndrome) and potentially other genetic factors.
Sources: Literature
Disorders of immune dysregulation v0.172 DOCK2 Bryony Thompson Marked gene: DOCK2 as ready
Disorders of immune dysregulation v0.172 DOCK2 Bryony Thompson Gene: dock2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.172 DOCK2 Bryony Thompson Phenotypes for gene: DOCK2 were changed from HLH to Genetic hemophagocytic lymphohistiocytosis MONDO:0015541
Disorders of immune dysregulation v0.171 DOCK2 Bryony Thompson Classified gene: DOCK2 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.171 DOCK2 Bryony Thompson Gene: dock2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.170 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Disorders of immune dysregulation v0.170 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.170 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from Immune dysregulation to LIG4 syndrome, MIM# 606593; Immune dysregulation
Disorders of immune dysregulation v0.169 LIG4 Zornitza Stark Classified gene: LIG4 as Green List (high evidence)
Disorders of immune dysregulation v0.169 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.168 LIG4 Peter McNaughton gene: LIG4 was added
gene: LIG4 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: LIG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to PMID: 37004747
Phenotypes for gene: LIG4 were set to Immune dysregulation
Mode of pathogenicity for gene: LIG4 was set to Other
Review for gene: LIG4 was set to GREEN
Added comment: 2 variants (p.R580Q, p.A842D) in unrelated patients associated with a dominantly inherited
familial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient.
Sources: Literature
Disorders of immune dysregulation v0.168 DOCK11 Seb Lunke Marked gene: DOCK11 as ready
Disorders of immune dysregulation v0.168 DOCK11 Seb Lunke Gene: dock11 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.168 DOCK11 Seb Lunke Classified gene: DOCK11 as Green List (high evidence)
Disorders of immune dysregulation v0.168 DOCK11 Seb Lunke Gene: dock11 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.167 DOCK11 Lucy Spencer gene: DOCK11 was added
gene: DOCK11 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DOCK11 were set to 36952639
Phenotypes for gene: DOCK11 were set to autoimmune disease MONDO:0007179, DOCK11-related
Review for gene: DOCK11 was set to GREEN
Added comment: 8 male patients from 7 unrelated families all with hemizygous DOCK11 missense variants. 6 mothers were tested and found to carry the same missense. Early onset autoimmuniy with cytopenia, systemic lupus erythematosus, and skin and digestive manifestations. Patients platelets had abnormal morphology and spreading as well as impaired CDC42 activity. In vitro activated T cells and B lymphoblastoid cell lines (B-LCL) of patients exhibited aberrant protrusions and abnormal migration speed in confined channels concomitant with altered actin polymerization during migration. A DOCK11 knock-down recapitulated these abnormal cellular phenotypes in monocytes-derived dendritic cells (MDDC) and primary activated T cells from healthy controls.

6 of the variants are either absent or have only 1 het in gnomad v2, but one of them has 2 hemis and 1 het. The patient with this variant R1885C does seem to be more mild.
Sources: Literature
Disorders of immune dysregulation v0.167 TNFRSF9 Zornitza Stark Phenotypes for gene: TNFRSF9 were changed from EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection to Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Disorders of immune dysregulation v0.166 TNFRSF9 Zornitza Stark edited their review of gene: TNFRSF9: Changed phenotypes: Immunodeficiency 109 with lymphoproliferation, MIM# 620282, EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection
Disorders of immune dysregulation v0.166 DOCK2 Peter McNaughton gene: DOCK2 was added
gene: DOCK2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: DOCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DOCK2 were set to PMID: 36836791
Phenotypes for gene: DOCK2 were set to HLH
Review for gene: DOCK2 was set to AMBER
Added comment: Patient with recurrent HLH. Heterozygous c.1334A>G (p.Asn445Ser) variant. Functional studies showing lower CD107a expression and diminished NK degranulation and cytotoxicity. ? partial dominant negative.
Sources: Literature
Disorders of immune dysregulation v0.166 STAT6 Zornitza Stark Marked gene: STAT6 as ready
Disorders of immune dysregulation v0.166 STAT6 Zornitza Stark Gene: stat6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.166 STAT6 Zornitza Stark Phenotypes for gene: STAT6 were changed from early-onset multiorgan allergies to Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies
Disorders of immune dysregulation v0.165 STAT6 Zornitza Stark Classified gene: STAT6 as Green List (high evidence)
Disorders of immune dysregulation v0.165 STAT6 Zornitza Stark Gene: stat6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.164 STAT6 Peter McNaughton edited their review of gene: STAT6: Added comment: Report of another child with severe atopic dermatitis, eosinophilia and elevated IgE with extensive functional data.; Changed rating: GREEN; Changed publications: PMID: 36216080, PMID: 36758835
Disorders of immune dysregulation v0.164 STAT6 Peter McNaughton changed review comment from: STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with
3 affected members, extensive functional data to support mechanism of allergic disease.
Sources: Literature; to: STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with
3 affected members, extensive functional data to support mechanism of allergic disease.
Sources: Literature
Disorders of immune dysregulation v0.164 STAT6 Peter McNaughton gene: STAT6 was added
gene: STAT6 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT6 were set to PMID: 36216080
Phenotypes for gene: STAT6 were set to early-onset multiorgan allergies
Mode of pathogenicity for gene: STAT6 was set to Other
Review for gene: STAT6 was set to AMBER
Added comment: STAT6 gain-of-function variant associated with early-onset multiorgan allergies in a family with
3 affected members, extensive functional data to support mechanism of allergic disease.
Sources: Literature
Disorders of immune dysregulation v0.164 Zornitza Stark HPO terms changed from to Immune dysregulation, HP:0002958
List of related panels changed from to Immune dysregulation; HP:0002958
Disorders of immune dysregulation v0.163 IL2RB Zornitza Stark Tag treatable tag was added to gene: IL2RB.
Disorders of immune dysregulation v0.163 IL2RB Zornitza Stark changed review comment from: Five families reported.
Sources: Expert list; to: Five families reported.

Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative.

Sources: Expert list
Disorders of immune dysregulation v0.163 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Disorders of immune dysregulation v0.163 SOCS1 Zornitza Stark Publications for gene: SOCS1 were set to 33087723
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Marked gene: FGL2 as ready
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Phenotypes for gene: FGL2 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, FGL2-related
Disorders of immune dysregulation v0.161 FGL2 Zornitza Stark Classified gene: FGL2 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.161 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark commented on gene: FGL2: Homozygous truncating variant, functional studies include rescue experiments.
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark edited their review of gene: FGL2: Changed rating: AMBER
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark reviewed gene: FGL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, FGL2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.160 SOCS1 Peter McNaughton reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35976468; Phenotypes: Early onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.160 FGL2 Peter McNaughton gene: FGL2 was added
gene: FGL2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGL2 were set to PMID: 36243222
Phenotypes for gene: FGL2 were set to Immune dysregulation
Review for gene: FGL2 was set to RED
Added comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis with supportive functional data
Sources: Literature
Disorders of immune dysregulation v0.160 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Disorders of immune dysregulation v0.160 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH
Disorders of immune dysregulation v0.159 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Disorders of immune dysregulation v0.158 NFAT5 Zornitza Stark Classified gene: NFAT5 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.158 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.157 NFAT5 Peter McNaughton reviewed gene: NFAT5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36238298; Phenotypes: EBV susceptibility, HLH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.157 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Marked gene: XIAP as ready
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Disorders of immune dysregulation v0.156 TRAF3 Zornitza Stark Classified gene: TRAF3 as Green List (high evidence)
Disorders of immune dysregulation v0.156 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.155 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.155 TRAF3 Peter McNaughton gene: TRAF3 was added
gene: TRAF3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: TRAF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF3 were set to PMID: 35960817
Phenotypes for gene: TRAF3 were set to hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Review for gene: TRAF3 was set to GREEN
Added comment: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals
Sources: Literature
Disorders of immune dysregulation v0.155 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Disorders of immune dysregulation v0.155 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Disorders of immune dysregulation v0.155 NBAS Zornitza Stark Marked gene: NBAS as ready
Disorders of immune dysregulation v0.155 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.155 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from Hemophagocytic lymphohistiocytosis (HLH) to Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Disorders of immune dysregulation v0.154 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Disorders of immune dysregulation v0.154 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Marked gene: CBLB as ready
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Classified gene: CBLB as Green List (high evidence)
Disorders of immune dysregulation v0.153 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.152 CBLB Alison Yeung gene: CBLB was added
gene: CBLB was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBLB were set to 36006710
Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179
Review for gene: CBLB was set to GREEN
Added comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking.
Sources: Literature
Disorders of immune dysregulation v0.151 NBAS Belinda Chong gene: NBAS was added
gene: NBAS was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 35902954
Phenotypes for gene: NBAS were set to Hemophagocytic lymphohistiocytosis (HLH)
Review for gene: NBAS was set to GREEN
gene: NBAS was marked as current diagnostic
Added comment: 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.
Sources: Literature
Disorders of immune dysregulation v0.151 IKZF2 Zornitza Stark Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation
Disorders of immune dysregulation v0.150 IKZF2 Zornitza Stark Publications for gene: IKZF2 were set to 34920454
Disorders of immune dysregulation v0.149 IKZF2 Zornitza Stark Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.148 IKZF1 Bryony Thompson Marked gene: IKZF1 as ready
Disorders of immune dysregulation v0.148 IKZF1 Bryony Thompson Gene: ikzf1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.148 IKZF1 Bryony Thompson Classified gene: IKZF1 as Green List (high evidence)
Disorders of immune dysregulation v0.148 IKZF1 Bryony Thompson Gene: ikzf1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.147 IKZF1 Peter McNaughton gene: IKZF1 was added
gene: IKZF1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to PMID: 35333544
Phenotypes for gene: IKZF1 were set to Immune dysregulation
Mode of pathogenicity for gene: IKZF1 was set to Other
Review for gene: IKZF1 was set to GREEN
Added comment: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.
Sources: Literature
Disorders of immune dysregulation v0.147 IKZF2 Peter McNaughton reviewed gene: IKZF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34826259; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.147 PDCD1 Zornitza Stark Marked gene: PDCD1 as ready
Disorders of immune dysregulation v0.147 PDCD1 Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.147 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from Complex Autoimmunity to Complex Autoimmunity; Inborn errors of immunity, MONDO:0003778
Disorders of immune dysregulation v0.146 PDCD1 Zornitza Stark Classified gene: PDCD1 as Red List (low evidence)
Disorders of immune dysregulation v0.146 PDCD1 Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.145 RHOG Zornitza Stark Marked gene: RHOG as ready
Disorders of immune dysregulation v0.145 RHOG Zornitza Stark Gene: rhog has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.145 RHOG Zornitza Stark Phenotypes for gene: RHOG were changed from HLH to Genetic HLH, MONDO:0015541, RHOG-related
Disorders of immune dysregulation v0.144 RHOG Zornitza Stark Classified gene: RHOG as Amber List (moderate evidence)
Disorders of immune dysregulation v0.144 RHOG Zornitza Stark Gene: rhog has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.143 RHOG Zornitza Stark reviewed gene: RHOG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Genetic HLH, MONDO:0015541, RHOG-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.143 PDCD1 Peter McNaughton gene: PDCD1 was added
gene: PDCD1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: PDCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD1 were set to PMID: 34183838
Phenotypes for gene: PDCD1 were set to Complex Autoimmunity
Review for gene: PDCD1 was set to RED
Added comment: Single patient born to consanguineous parents presenting with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA)
Sources: Literature
Disorders of immune dysregulation v0.143 RHOG Peter McNaughton gene: RHOG was added
gene: RHOG was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHOG were set to PMID: 33513601
Phenotypes for gene: RHOG were set to HLH
Review for gene: RHOG was set to RED
Added comment: Single patient with supportive functional data.
Sources: Literature
Disorders of immune dysregulation v0.143 SASH3 Zornitza Stark Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082
Disorders of immune dysregulation v0.142 SASH3 Zornitza Stark edited their review of gene: SASH3: Changed phenotypes: Immunodeficiency 102, MIM# 301082
Disorders of immune dysregulation v0.142 GIMAP6 Zornitza Stark Phenotypes for gene: GIMAP6 were changed from Autophagy, immune competence and inflammation to Autoinflammatory syndrome MONDO:0019751, GIMAP6-related
Disorders of immune dysregulation v0.141 GIMAP6 Elena Savva Classified gene: GIMAP6 as Green List (high evidence)
Disorders of immune dysregulation v0.141 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.141 GIMAP6 Elena Savva Classified gene: GIMAP6 as Green List (high evidence)
Disorders of immune dysregulation v0.141 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.140 GIMAP6 Elena Savva Classified gene: GIMAP6 as Green List (high evidence)
Disorders of immune dysregulation v0.140 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.140 GIMAP6 Elena Savva Classified gene: GIMAP6 as Green List (high evidence)
Disorders of immune dysregulation v0.140 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.140 GIMAP6 Elena Savva Classified gene: GIMAP6 as Green List (high evidence)
Disorders of immune dysregulation v0.140 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.139 GIMAP6 Elena Savva Marked gene: GIMAP6 as ready
Disorders of immune dysregulation v0.139 GIMAP6 Elena Savva Gene: gimap6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.139 GIMAP6 Elena Savva gene: GIMAP6 was added
gene: GIMAP6 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIMAP6 were set to PMID: 35551368; 33328581
Phenotypes for gene: GIMAP6 were set to Autophagy, immune competence and inflammation
Review for gene: GIMAP6 was set to GREEN
Added comment: PMID: 35551368, PMID: 33328581
- K/O mice show autophagy, redox regulation, and polyunsaturated fatty acid (PUFA)–containing lipids and die prematurely from microangiopathic glomerulosclerosis with immunodeficiency.
- 2 unrelated families (3 patients) w/ a homozygous missense (p.Gly153Val) and nonsense (p.Trp86*). All unaffected siblings were heterozygous.
Patient 1 (missense) presented with Coombs-positive hemolytic anemia, hepatosplenomegaly, Cranial MRI showed bilateral effusions, sulcal hyperintensity, and lateral parietal subcortical acute focal ischemic lesions.
Patient 2 (nonsense) presented with recurrent purulent otitis media and a chronic wet cough, persistent jaundice, recurrent chest and ear infections, lingular consolidation, mild bronchiectasis, bibasilar bronchial wall thickening, right peribronchial consolidation, right lower lobe bronchiectasis, bilateral axillary lymphadenopathy, and splenomegaly.
Patient 3 (nonsense) presented with suffered headaches, abdomen pain, mouth ulcers, and recurrent infections

- Functional studies show patient 1 (missense) with reduced protein expression on western blot, and patient 2/3 (nonsense) with no protein expression. T cells of Pt 1 were similar to mouse K/O model (elevated basal LC3-II, reduced autophagic flux).

gnomAD: 0 homozygous PTCs, but a very common canonical splice which is present in the non-canonical transcript Sources: Literature
Sources: Literature
Disorders of immune dysregulation v0.138 TLR7 Zornitza Stark Marked gene: TLR7 as ready
Disorders of immune dysregulation v0.138 TLR7 Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.138 TLR7 Zornitza Stark Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disorders of immune dysregulation v0.137 TLR7 Zornitza Stark Classified gene: TLR7 as Green List (high evidence)
Disorders of immune dysregulation v0.137 TLR7 Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.136 TLR7 Zornitza Stark gene: TLR7 was added
gene: TLR7 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TLR7 were set to 35477763
Phenotypes for gene: TLR7 were set to Systemic lupus erythematosus 17, MIM# 301080
Review for gene: TLR7 was set to GREEN
Added comment: XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.135 FASLG Zornitza Stark Marked gene: FASLG as ready
Disorders of immune dysregulation v0.135 FASLG Zornitza Stark Gene: faslg has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.135 FASLG Zornitza Stark Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Disorders of immune dysregulation v0.134 FASLG Zornitza Stark Publications for gene: FASLG were set to
Disorders of immune dysregulation v0.133 FASLG Zornitza Stark Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.132 FASLG Zornitza Stark reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.132 FADD Bryony Thompson Marked gene: FADD as ready
Disorders of immune dysregulation v0.132 FADD Bryony Thompson Gene: fadd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.132 FADD Bryony Thompson Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408
Disorders of immune dysregulation v0.131 FADD Bryony Thompson Publications for gene: FADD were set to
Disorders of immune dysregulation v0.130 FADD Bryony Thompson Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.129 FADD Bryony Thompson reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.129 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Marked gene: HAVCR2 as ready
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Gene: havcr2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Classified gene: HAVCR2 as Green List (high evidence)
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Gene: havcr2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.127 HAVCR2 Bryony Thompson gene: HAVCR2 was added
gene: HAVCR2 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30792187; 30374066
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
gene: HAVCR2 was marked as current diagnostic
Added comment: Hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation, is a common feature of the condition.
Sources: Expert list
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Marked gene: GATA2 as ready
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Gene: gata2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Classified gene: GATA2 as Green List (high evidence)
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Gene: gata2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.125 GATA2 Bryony Thompson gene: GATA2 was added
gene: GATA2 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 26395816; 27169477; 29493060; 30564229; 31350183; 33410496; 33684095; 34040617
Phenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)
Review for gene: GATA2 was set to GREEN
gene: GATA2 was marked as current diagnostic
Added comment: At least 8 GATA2 deficiency cases reported with hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation.
Sources: Expert list
Disorders of immune dysregulation v0.124 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000
Disorders of immune dysregulation v0.123 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Disorders of immune dysregulation v0.123 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.122 BLOC1S6 Bryony Thompson reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Disorders of immune dysregulation v0.121 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Disorders of immune dysregulation v0.120 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.119 CASP8 Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.119 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.118 CASP8 Zornitza Stark reviewed gene: CASP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Marked gene: CASP10 as ready
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Gene: casp10 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Disorders of immune dysregulation v0.117 CASP10 Zornitza Stark Publications for gene: CASP10 were set to
Disorders of immune dysregulation v0.116 CASP10 Zornitza Stark Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.115 CASP10 Zornitza Stark reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Marked gene: STX11 as ready
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Disorders of immune dysregulation v0.114 STX11 Zornitza Stark Publications for gene: STX11 were set to
Disorders of immune dysregulation v0.113 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.112 STX11 Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Disorders of immune dysregulation v0.111 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Disorders of immune dysregulation v0.110 UNC13D Zornitza Stark Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.109 UNC13D Zornitza Stark reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.109 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Disorders of immune dysregulation v0.108 XIAP Zornitza Stark Publications for gene: XIAP were set to 22228567; 25943627
Disorders of immune dysregulation v0.107 XIAP Zornitza Stark Publications for gene: XIAP were set to
Disorders of immune dysregulation v0.107 XIAP Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disorders of immune dysregulation v0.106 XIAP Zornitza Stark reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2, MIM# 300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disorders of immune dysregulation v0.106 AP3D1 Bryony Thompson Publications for gene: AP3D1 were set to 26744459; 9697856
Disorders of immune dysregulation v0.105 AP3D1 Bryony Thompson Classified gene: AP3D1 as Green List (high evidence)
Disorders of immune dysregulation v0.105 AP3D1 Bryony Thompson Gene: ap3d1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.104 AP3D1 Bryony Thompson reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30472485, 9697856, 26744459; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Marked gene: IKZF2 as ready
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Classified gene: IKZF2 as Green List (high evidence)
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.103 IKZF2 Zornitza Stark gene: IKZF2 was added
gene: IKZF2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF2 were set to 34920454
Phenotypes for gene: IKZF2 were set to Immune dysregulation
Review for gene: IKZF2 was set to GREEN
Added comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells.
Sources: Literature
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Classified gene: RHBDF2 as Green List (high evidence)
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.101 RHBDF2 Zornitza Stark gene: RHBDF2 was added
gene: RHBDF2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF2 were set to 34937930
Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency
Review for gene: RHBDF2 was set to GREEN
Added comment: 4 individuals from 2 families with LoF variants in this gene and recurrent infections. Functional data including mouse model.

Note mono allelic (missense) variants in this gene are associated with tylosis.
Sources: Literature
Disorders of immune dysregulation v0.100 CARD10 Zornitza Stark Marked gene: CARD10 as ready
Disorders of immune dysregulation v0.100 CARD10 Zornitza Stark Gene: card10 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.100 CARD10 Zornitza Stark gene: CARD10 was added
gene: CARD10 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARD10 were set to 32238915
Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632
Review for gene: CARD10 was set to RED
Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Expert list
Disorders of immune dysregulation v0.99 DEF6 Zornitza Stark Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity
Disorders of immune dysregulation v0.98 DEF6 Zornitza Stark Publications for gene: DEF6 were set to 31308374
Disorders of immune dysregulation v0.97 DEF6 Zornitza Stark Classified gene: DEF6 as Green List (high evidence)
Disorders of immune dysregulation v0.97 DEF6 Zornitza Stark Gene: def6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.96 DEF6 Zornitza Stark edited their review of gene: DEF6: Added comment: Additional family reported with 4 affected siblings.; Changed rating: GREEN; Changed publications: 31308374, 32562707; Changed phenotypes: Immunodeficiency 87 and autoimmunity, MIM# 619573, Systemic autoimmunity
Disorders of immune dysregulation v0.96 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Disorders of immune dysregulation v0.96 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.96 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Lymphoproliferation; solid organ autoimmunity; recurrent infections; short stature; eczema; delayed puberty; dental abnormalities; autoimmune interstitial lung disease; juvenile-onset arthritis; primary hypothyroidism
Disorders of immune dysregulation v0.95 STAT3 Zornitza Stark Publications for gene: STAT3 were set to
Disorders of immune dysregulation v0.94 STAT3 Zornitza Stark Mode of pathogenicity for gene: STAT3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Disorders of immune dysregulation v0.93 STAT3 Zornitza Stark Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.92 STAT3 Danielle Ariti reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25349174, 25038750, 25359994, 16783372; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952, Lymphoproliferation, solid organ autoimmunity, recurrent infections, short stature, eczema, delayed puberty, dental abnormalities, autoimmune interstitial lung disease, juvenile-onset arthritis, primary hypothyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.92 PRKCD Zornitza Stark Marked gene: PRKCD as ready
Disorders of immune dysregulation v0.92 PRKCD Zornitza Stark Gene: prkcd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.92 PRKCD Zornitza Stark Phenotypes for gene: PRKCD were changed from to Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9
Disorders of immune dysregulation v0.91 PRKCD Zornitza Stark Publications for gene: PRKCD were set to
Disorders of immune dysregulation v0.90 PRKCD Zornitza Stark Mode of inheritance for gene: PRKCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.89 PRKCD Zornitza Stark reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23319571, 23666743, 23430113, 11976687, 33047643, 29867916; Phenotypes: Autoimmune lymphoproliferative syndrome, type III, MIM# 615559, CVID 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.89 CTLA4 Zornitza Stark Marked gene: CTLA4 as ready
Disorders of immune dysregulation v0.89 CTLA4 Zornitza Stark Gene: ctla4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.89 CTLA4 Zornitza Stark Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Disorders of immune dysregulation v0.88 CTLA4 Zornitza Stark Publications for gene: CTLA4 were set to
Disorders of immune dysregulation v0.87 CTLA4 Zornitza Stark Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.86 CTLA4 Zornitza Stark reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25213377, 25329329, 30377434; Phenotypes: Autoimmune lymphoproliferative syndrome, type V, MIM# 616100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.86 IPO8 Zornitza Stark Phenotypes for gene: IPO8 were changed from Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Disorders of immune dysregulation v0.85 IPO8 Zornitza Stark edited their review of gene: IPO8: Changed phenotypes: Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472, Loeys-Dietz syndrome-like, cardiovascular, neurologic, skeletal and immunologic abnormalities
Disorders of immune dysregulation v0.85 SYK Zornitza Stark Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Disorders of immune dysregulation v0.84 SYK Zornitza Stark reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.84 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Early-onset autoimmunity to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Early-onset autoimmunity
Disorders of immune dysregulation v0.83 SOCS1 Zornitza Stark edited their review of gene: SOCS1: Changed phenotypes: Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375, Early-onset autoimmunity
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Marked gene: SASH3 as ready
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Classified gene: SASH3 as Green List (high evidence)
Disorders of immune dysregulation v0.83 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.82 SASH3 Zornitza Stark gene: SASH3 was added
gene: SASH3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SASH3 were set to 33876203
Phenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation
Review for gene: SASH3 was set to GREEN
Added comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense.
Sources: Literature
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.80 IPO8 Zornitza Stark gene: IPO8 was added
gene: IPO8 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Review for gene: IPO8 was set to GREEN
Added comment: 12 individuals from 9 unrelated families in a cohort with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Literature
Disorders of immune dysregulation v0.79 SYK Alison Yeung Marked gene: SYK as ready
Disorders of immune dysregulation v0.79 SYK Alison Yeung Gene: syk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.79 SYK Alison Yeung Classified gene: SYK as Green List (high evidence)
Disorders of immune dysregulation v0.79 SYK Alison Yeung Gene: syk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.78 SYK Paul De Fazio gene: SYK was added
gene: SYK was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYK were set to 33782605
Phenotypes for gene: SYK were set to Immune dysregulation and systemic inflammation
Mode of pathogenicity for gene: SYK was set to Other
Review for gene: SYK was set to GREEN
gene: SYK was marked as current diagnostic
Added comment: 5 unrelated patients with monoallelic missense variants in SYK with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. 2 patients were confirmed de novo, others were undetermined. Variants exhibited a GoF effect in functional studies. A knock-in mouse model of a patient variant recapitulated aspects of the human disease.
Sources: Literature
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Marked gene: ZAP70 as ready
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Gene: zap70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Classified gene: ZAP70 as Green List (high evidence)
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Gene: zap70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.77 ZAP70 Bryony Thompson gene: ZAP70 was added
gene: ZAP70 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAP70 were set to 26783323; 32431715; 32048120
Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
Review for gene: ZAP70 was set to GREEN
gene: ZAP70 was marked as current diagnostic
Added comment: At least 7 cases have been reported with autoimmunity/immune dysregulation and biallelic variants
Sources: Expert list
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Disorders of immune dysregulation v0.75 TPP2 Zornitza Stark Publications for gene: TPP2 were set to
Disorders of immune dysregulation v0.74 TPP2 Zornitza Stark Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.73 TPP2 Zornitza Stark reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.73 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Immune dysregulation; Lymphoma to Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126
Disorders of immune dysregulation v0.72 TET2 Zornitza Stark edited their review of gene: TET2: Changed phenotypes: Immune dysregulation, Lymphoma, Immunodeficiency-75 (IMD75), MIM#619126
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Marked gene: SOCS1 as ready
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Classified gene: SOCS1 as Green List (high evidence)
Disorders of immune dysregulation v0.72 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.71 SOCS1 Zornitza Stark gene: SOCS1 was added
gene: SOCS1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to 33087723
Phenotypes for gene: SOCS1 were set to Early-onset autoimmunity
Review for gene: SOCS1 was set to GREEN
Added comment: Ten individuals from 5 unrelated families with LOF variants in this gene and early-onset autoimmunity. Functional data indicates cytokine hypersensitivity of immune cells.
Sources: Literature
Disorders of immune dysregulation v0.70 GATA3 Zornitza Stark Mode of pathogenicity for gene: GATA3 was changed from None to Other
Disorders of immune dysregulation v0.69 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Disorders of immune dysregulation v0.69 GATA3 Zornitza Stark Added comment: Comment when marking as ready: Dominant negative effect proposed.
Disorders of immune dysregulation v0.69 GATA3 Zornitza Stark Gene: gata3 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.69 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Disorders of immune dysregulation v0.69 GATA3 Zornitza Stark Gene: gata3 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.69 GATA3 Zornitza Stark Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 to Immune dysregulation; Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255
Disorders of immune dysregulation v0.68 GATA3 Zornitza Stark Classified gene: GATA3 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.68 GATA3 Zornitza Stark Gene: gata3 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.67 GATA3 Elena Savva gene: GATA3 was added
gene: GATA3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to PMID: 31238969
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255
Review for gene: GATA3 was set to AMBER
gene: GATA3 was marked as current diagnostic
Added comment: PMID: 31238969: patient with protein elongation variant p.(M401Vfs*106) has an additional phenotype of juvenile idiopathic arthritis. Functional studies on the variant support pathogenicity, and analysis of patient cells indicate defective T helper cell differentiation and cytokine production.
Sources: Literature
Disorders of immune dysregulation v0.67 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Disorders of immune dysregulation v0.67 RAB27A Zornitza Stark Gene: rab27a has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.67 RAB27A Zornitza Stark Phenotypes for gene: RAB27A were changed from to Griscelli syndrome, type 2, MIM# 607624
Disorders of immune dysregulation v0.66 RAB27A Zornitza Stark Publications for gene: RAB27A were set to
Disorders of immune dysregulation v0.65 RAB27A Zornitza Stark Mode of inheritance for gene: RAB27A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.64 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835631, 10704277, 19030707, 15163896, 12058346, 10859366; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Marked gene: TET2 as ready
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Gene: tet2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Classified gene: TET2 as Green List (high evidence)
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Gene: tet2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.63 TET2 Zornitza Stark gene: TET2 was added
gene: TET2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: TET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TET2 were set to 32518946
Phenotypes for gene: TET2 were set to Immune dysregulation; Lymphoma
Review for gene: TET2 was set to GREEN
Added comment: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.
Sources: Literature
Disorders of immune dysregulation v0.62 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Disorders of immune dysregulation v0.61 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Disorders of immune dysregulation v0.61 NCKAP1L Zornitza Stark Phenotypes for gene: NCKAP1L were changed from Immunodeficiency; Immune dysregulation to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation, MIM# 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Marked gene: NCKAP1L as ready
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence)
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.59 NCKAP1L Zornitza Stark gene: NCKAP1L was added
gene: NCKAP1L was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation
Review for gene: NCKAP1L was set to GREEN
Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature
Disorders of immune dysregulation v0.58 RIPK1 Zornitza Stark changed review comment from: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; to: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280
Disorders of immune dysregulation v0.58 RIPK1 Zornitza Stark Publications for gene: RIPK1 were set to 30026316
Disorders of immune dysregulation v0.57 RIPK1 Zornitza Stark Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.56 RIPK1 Zornitza Stark edited their review of gene: RIPK1: Added comment: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; Changed publications: 30026316, 30591564, 31213653, 31827280; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.56 RIPK1 Zornitza Stark edited their review of gene: RIPK1: Added comment: Seven further families reported, inflammatory bowel disease/enteropathy common features.; Changed publications: 30026316, 30591564, 31213653
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Marked gene: POMP as ready
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Classified gene: POMP as Green List (high evidence)
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.55 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMP were set to 29805043
Phenotypes for gene: POMP were set to Combined immunodeficiency; Autoinflammation
Review for gene: POMP was set to GREEN
Added comment: Two unrelated individuals, functional data. Truncating variants in penultimate exon, escape NMD, postulated to act through a dominant negative mechanism.
Sources: Expert list
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Marked gene: NFAT5 as ready
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Disorders of immune dysregulation v0.53 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Disorders of immune dysregulation v0.53 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to
Disorders of immune dysregulation v0.52 NFAT5 Zornitza Stark Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.51 NFAT5 Zornitza Stark Classified gene: NFAT5 as Red List (low evidence)
Disorders of immune dysregulation v0.51 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.50 NFAT5 Zornitza Stark reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.50 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.50 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed publications: 22461475, 21665000, 32245340
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Disorders of immune dysregulation v0.48 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Disorders of immune dysregulation v0.47 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.46 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence)
Disorders of immune dysregulation v0.46 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.45 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Classified gene: MAGT1 as Green List (high evidence)
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.44 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 31036665; 25504528; 21796205; 24550228; 25956530
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Review for gene: MAGT1 was set to GREEN
Added comment: Multiple unrelated individuals reported, some overlap with the CDG associated with his gene.
Sources: Expert list
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Marked gene: ITK as ready
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Classified gene: ITK as Green List (high evidence)
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.42 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITK were set to 19425169; 22289921; 21109689
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV associated B call lymphoproliferation, lymphoma
Review for gene: ITK was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark changed review comment from: Two unrelated individuals with same homozygous G109S missense variant, some functional data.
Sources: Expert list; to: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark edited their review of gene: TNFRSF9: Changed rating: GREEN; Changed publications: 30872117, 31501153
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to RED
Added comment: Two unrelated individuals with same homozygous G109S missense variant, some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Classified gene: CTPS1 as Green List (high evidence)
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.38 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTPS1 were set to 24870241
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Review for gene: CTPS1 was set to GREEN
Added comment: At least 5 families reported.
Sources: Expert list
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Marked gene: CD27 as ready
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Classified gene: CD27 as Green List (high evidence)
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.36 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22801960; 22197273
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM# 615122
Review for gene: CD27 was set to GREEN
Added comment: At least four families reported.
Sources: Expert list
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.34 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Two families and some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark Gene: jak1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 28111307
Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections
Mode of pathogenicity for gene: JAK1 was set to Other
Review for gene: JAK1 was set to RED
Added comment: Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Marked gene: LRBA as ready
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Classified gene: LRBA as Green List (high evidence)
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.31 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22721650; 25468195; 26206937; 22608502
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections
Review for gene: LRBA was set to GREEN
Added comment: Sources: Expert list
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.29 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184; 31040185
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Review for gene: IL2RB was set to GREEN
Added comment: Five families reported.
Sources: Expert list
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Review for gene: AP3D1 was set to RED
Added comment: Single family and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Green List (high evidence)
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.26 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700; Hyper-inflammatory response of macrophages; Normal NK cell function; Lysinuric protein intolerance; Bleeding tendency; Alverolar proteinosis
Review for gene: SLC7A7 was set to GREEN
Added comment: Sources: Expert list
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark Marked gene: FAAP24 as ready
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark gene: FAAP24 was added
gene: FAAP24 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP24 were set to 27473539
Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease
Review for gene: FAAP24 was set to RED
Added comment: Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.24 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Disorders of immune dysregulation v0.23 AIRE Zornitza Stark Marked gene: AIRE as ready
Disorders of immune dysregulation v0.23 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.23 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Disorders of immune dysregulation v0.22 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.21 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.21 Zornitza Stark Panel name changed from Disorders of immune dysregulation_MelbourneGenomics_VCGS to Disorders of immune dysregulation
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Marked gene: RIPK1 as ready
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Classified gene: RIPK1 as Green List (high evidence)
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.19 RIPK1 Zornitza Stark gene: RIPK1 was added
gene: RIPK1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to 30026316
Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108
Review for gene: RIPK1 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Classified gene: RASGRP1 as Green List (high evidence)
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.17 RASGRP1 Zornitza Stark gene: RASGRP1 was added
gene: RASGRP1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP1 were set to 29155103; 28822832; 17675473; 27776107; 29282224
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64, MIM#618534
Review for gene: RASGRP1 was set to GREEN
Added comment: At least four families reported; mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Marked gene: PEPD as ready
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Classified gene: PEPD as Green List (high evidence)
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.15 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, MIM#170100
Review for gene: PEPD was set to GREEN
Added comment: Recurrent infections, SLE.
Sources: Expert list
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Marked gene: CD70 as ready
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Classified gene: CD70 as Green List (high evidence)
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.13 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD70 were set to 28011864; 28011863
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261
Review for gene: CD70 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Marked gene: CARMIL2 as ready
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Classified gene: CARMIL2 as Green List (high evidence)
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.11 CARMIL2 Zornitza Stark gene: CARMIL2 was added
gene: CARMIL2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARMIL2 were set to 29479355; 28112205; 27896283
Phenotypes for gene: CARMIL2 were set to Immunodeficiency 58, MIM# 618131
Review for gene: CARMIL2 was set to GREEN
Added comment: Eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses; inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Effective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired
Sources: Expert list
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Classified gene: BACH2 as Green List (high evidence)
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.9 BACH2 Zornitza Stark gene: BACH2 was added
gene: BACH2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BACH2 were set to 28530713
Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Review for gene: BACH2 was set to GREEN
Added comment: Two families and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Marked gene: DEF6 as ready
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.8 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.7 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.7 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.6 DEF6 Zornitza Stark gene: DEF6 was added
gene: DEF6 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEF6 were set to 31308374
Phenotypes for gene: DEF6 were set to Systemic autoimmunity
Review for gene: DEF6 was set to AMBER
Added comment: Three individuals from two unrelated families, some functional data.
Sources: Literature
Disorders of immune dysregulation v0.2 Zornitza Stark Panel name changed from Disorders of immune dysregulation_MGHA_AGHA_VCGS to Disorders of immune dysregulation_MelbourneGenomics_VCGS
Disorders of immune dysregulation v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: XIAP was set to Unknown
Disorders of immune dysregulation v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: UNC13D was set to Unknown
Disorders of immune dysregulation v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TREX1 was set to Unknown
Disorders of immune dysregulation v0.0 TPP2 Zornitza Stark gene: TPP2 was added
gene: TPP2 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TPP2 was set to Unknown
Disorders of immune dysregulation v0.0 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TMEM173 was set to Unknown
Disorders of immune dysregulation v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STXBP2 was set to Unknown
Disorders of immune dysregulation v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STX11 was set to Unknown
Disorders of immune dysregulation v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STAT3 was set to Unknown
Disorders of immune dysregulation v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SH2D1A was set to Unknown
Disorders of immune dysregulation v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SAMHD1 was set to Unknown
Disorders of immune dysregulation v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RNASEH2C was set to Unknown
Disorders of immune dysregulation v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RNASEH2B was set to Unknown
Disorders of immune dysregulation v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RNASEH2A was set to Unknown
Disorders of immune dysregulation v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RAB27A was set to Unknown
Disorders of immune dysregulation v0.0 PRKCD Zornitza Stark gene: PRKCD was added
gene: PRKCD was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PRKCD was set to Unknown
Disorders of immune dysregulation v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PRF1 was set to Unknown
Disorders of immune dysregulation v0.0 NFAT5 Zornitza Stark gene: NFAT5 was added
gene: NFAT5 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFAT5 was set to Unknown
Disorders of immune dysregulation v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: LYST was set to Unknown
Disorders of immune dysregulation v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ITCH was set to Unknown
Disorders of immune dysregulation v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL2RA was set to Unknown
Disorders of immune dysregulation v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL10RB was set to Unknown
Disorders of immune dysregulation v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL10RA was set to Unknown
Disorders of immune dysregulation v0.0 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL10 was set to Unknown
Disorders of immune dysregulation v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IFIH1 was set to Unknown
Disorders of immune dysregulation v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FOXP3 was set to Unknown
Disorders of immune dysregulation v0.0 FASLG Zornitza Stark gene: FASLG was added
gene: FASLG was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FASLG was set to Unknown
Disorders of immune dysregulation v0.0 FAS Zornitza Stark gene: FAS was added
gene: FAS was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FAS was set to Unknown
Disorders of immune dysregulation v0.0 FADD Zornitza Stark gene: FADD was added
gene: FADD was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FADD was set to Unknown
Disorders of immune dysregulation v0.0 CTLA4 Zornitza Stark gene: CTLA4 was added
gene: CTLA4 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CTLA4 was set to Unknown
Disorders of immune dysregulation v0.0 CASP8 Zornitza Stark gene: CASP8 was added
gene: CASP8 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CASP8 was set to Unknown
Disorders of immune dysregulation v0.0 CASP10 Zornitza Stark gene: CASP10 was added
gene: CASP10 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CASP10 was set to Unknown
Disorders of immune dysregulation v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: BLOC1S6 was set to Unknown
Disorders of immune dysregulation v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: AP3B1 was set to Unknown
Disorders of immune dysregulation v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: AIRE was set to Unknown
Disorders of immune dysregulation v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ADAR was set to Unknown
Disorders of immune dysregulation v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ADA2 was set to Unknown
Disorders of immune dysregulation v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ACP5 was set to Unknown
Disorders of immune dysregulation v0.0 Zornitza Stark Added panel Disorders of immune dysregulation_MGHA_AGHA_VCGS