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Combined Immunodeficiency v1.114 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Combined Immunodeficiency v1.113 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.113 CHUK Chirag Patel Classified gene: CHUK as Green List (high evidence)
Combined Immunodeficiency v1.113 CHUK Chirag Patel Gene: chuk has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.112 CHUK Chirag Patel reviewed gene: CHUK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34533979; Phenotypes: Combined immunodeficiency, MONDO:0015131, CHUK-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.112 GUK1 Bryony Thompson Marked gene: GUK1 as ready
Combined Immunodeficiency v1.112 GUK1 Bryony Thompson Gene: guk1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.112 GUK1 Bryony Thompson Classified gene: GUK1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.112 GUK1 Bryony Thompson Gene: guk1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.111 GUK1 Bryony Thompson gene: GUK1 was added
gene: GUK1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related
Review for gene: GUK1 was set to AMBER
Added comment: Three cases from 2 unrelated families with biallelic variants leading to GUK1 deficiency had altered T-lymphocyte profiles, along with ptosis, ophthalmoparesis, myopathic proximal limb weakness, and variable hepatopathy. One additional case in this study had a normal lymphocyte profile.
Sources: Literature
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Marked gene: PTCRA as ready
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Gene: ptcra has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Classified gene: PTCRA as Green List (high evidence)
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Gene: ptcra has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.108 PTCRA Bryony Thompson reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122; Phenotypes: Immunodeficiency 126, MIM# 620931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.108 PTCRA Bryony Thompson gene: PTCRA was added
gene: PTCRA was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCRA were set to 38422122
Phenotypes for gene: PTCRA were set to Immunodeficiency 126, MIM# 620931
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Marked gene: FLT3LG as ready
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Gene: flt3lg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Classified gene: FLT3LG as Amber List (moderate evidence)
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Gene: flt3lg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.106 FLT3LG Bryony Thompson gene: FLT3LG was added
gene: FLT3LG was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLT3LG were set to 10828034; 38701783
Phenotypes for gene: FLT3LG were set to ?Immunodeficiency 125 MIM#620926
Review for gene: FLT3LG was set to AMBER
Added comment: One family reported and mouse models. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Marked gene: CD28 as ready
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Gene: cd28 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Classified gene: CD28 as Amber List (moderate evidence)
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Gene: cd28 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.104 CD28 Bryony Thompson gene: CD28 was added
gene: CD28 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD28 were set to 34214472
Phenotypes for gene: CD28 were set to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
Review for gene: CD28 was set to AMBER
Added comment: A single family reported and supporting mouse model. IUIS IEI committee classify the gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Marked gene: DSG1 as ready
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Classified gene: DSG1 as Green List (high evidence)
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.101 DSG1 Bryony Thompson gene: DSG1 was added
gene: DSG1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 23974871; 32126589; 29604126
Phenotypes for gene: DSG1 were set to severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Marked gene: STAT6 as ready
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Gene: stat6 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Classified gene: STAT6 as Green List (high evidence)
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Gene: stat6 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.99 STAT6 Bryony Thompson gene: STAT6 was added
gene: STAT6 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT6 were set to 36884218; 36758835
Phenotypes for gene: STAT6 were set to hyper-IgE syndrome MONDO:0018037
Mode of pathogenicity for gene: STAT6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: STAT6 was set to GREEN
gene: STAT6 was marked as current diagnostic
Added comment: Gain of function variants cause early-onset allergies. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Marked gene: RECQL4 as ready
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Gene: recql4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Classified gene: RECQL4 as Green List (high evidence)
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Gene: recql4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.97 RECQL4 Bryony Thompson gene: RECQL4 was added
gene: RECQL4 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 21143835; 26064716
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome MONDO:0010002
Review for gene: RECQL4 was set to GREEN
gene: RECQL4 was marked as current diagnostic
Added comment: Immunodeficiency can be a feature of RTS, but is not always present. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Marked gene: POLA1 as ready
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Gene: pola1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Classified gene: POLA1 as Green List (high evidence)
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Gene: pola1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.95 POLA1 Bryony Thompson gene: POLA1 was added
gene: POLA1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 27019227
Phenotypes for gene: POLA1 were set to X-linked reticulate pigmentary disorder MONDO:0010523
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: An intronic variant that alters splicing causes a combined primary immunodeficiency with autoinflammatory features. IUIS IEI committee classifies the gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Marked gene: MCM10 as ready
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Classified gene: MCM10 as Amber List (moderate evidence)
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.93 MCM10 Bryony Thompson gene: MCM10 was added
gene: MCM10 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM10 were set to Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266
Review for gene: MCM10 was set to AMBER
Added comment: 2 families reported with supporting functional studies
Moderate gene-disease classification - https://search.clinicalgenome.org/CCID:008284
Sources: Expert list
Combined Immunodeficiency v1.92 GINS4 Bryony Thompson Marked gene: GINS4 as ready
Combined Immunodeficiency v1.92 GINS4 Bryony Thompson Gene: gins4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.92 GINS4 Bryony Thompson gene: GINS4 was added
gene: GINS4 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS4 were set to 36345943
Phenotypes for gene: GINS4 were set to combined immunodeficiency MONDO:0015131
Review for gene: GINS4 was set to RED
Added comment: 2 affected siblings with compound het variants are reported in a single family.
Sources: Expert list
Combined Immunodeficiency v1.91 TAPBP Bryony Thompson Publications for gene: TAPBP were set to 12149238
Combined Immunodeficiency v1.90 TAPBP Bryony Thompson Classified gene: TAPBP as Amber List (moderate evidence)
Combined Immunodeficiency v1.90 TAPBP Bryony Thompson Gene: tapbp has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.89 TAPBP Bryony Thompson reviewed gene: TAPBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 38866210, 12149238; Phenotypes: MHC class I deficiency MONDO:0011476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.89 RHOH Bryony Thompson Publications for gene: RHOH were set to 38775840; 22850876; 27574848
Combined Immunodeficiency v1.88 RHOH Bryony Thompson Publications for gene: RHOH were set to 22850876; 27574848
Combined Immunodeficiency v1.87 RHOH Bryony Thompson Classified gene: RHOH as Amber List (moderate evidence)
Combined Immunodeficiency v1.87 RHOH Bryony Thompson Gene: rhoh has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.86 RHOH Bryony Thompson reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: 38775840, 22850876; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Marked gene: PRIM1 as ready
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson changed review comment from: 8 cases from 6 families with combined immunodeficiency a feature of the condition.
Sources: Expert list; to: 8 cases from 6 families with combined immunodeficiency a feature of the condition. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert list
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Classified gene: PRIM1 as Green List (high evidence)
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.85 PRIM1 Bryony Thompson gene: PRIM1 was added
gene: PRIM1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134; 38773012
Phenotypes for gene: PRIM1 were set to primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
Review for gene: PRIM1 was set to GREEN
Added comment: 8 cases from 6 families with combined immunodeficiency a feature of the condition.
Sources: Expert list
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Marked gene: POLD3 as ready
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Classified gene: POLD3 as Amber List (moderate evidence)
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.83 POLD3 Bryony Thompson gene: POLD3 was added
gene: POLD3 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD3 were set to 38099988; 37030525
Phenotypes for gene: POLD3 were set to Immunodeficiency 122, MIM# 620869
Review for gene: POLD3 was set to AMBER
Added comment: Two reported cases. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert list
Combined Immunodeficiency v1.82 MAN2B2 Bryony Thompson Publications for gene: MAN2B2 were set to PMID: 31775018
Combined Immunodeficiency v1.81 MAN2B2 Bryony Thompson Classified gene: MAN2B2 as Amber List (moderate evidence)
Combined Immunodeficiency v1.81 MAN2B2 Bryony Thompson Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.80 MAN2B2 Bryony Thompson reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Marked gene: IKZF2 as ready
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Gene: ikzf2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Classified gene: IKZF2 as Green List (high evidence)
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Gene: ikzf2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.79 IKZF2 Bryony Thompson gene: IKZF2 was added
gene: IKZF2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IKZF2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IKZF2 were set to 34826260; 34826259; 34920454
Phenotypes for gene: IKZF2 were set to HELIOS deficiency MONDO:0800139
Review for gene: IKZF2 was set to GREEN
Added comment: Cases present with a combined immunodeficiency phenotype characterised by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Incomplete penetrance is reported. IUIS IEI committee include this gene in the Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency subcategory of Immunodeficiencies affecting cellular and humoral immunity.
Sources: Expert list
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Marked gene: FOXI3 as ready
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Gene: foxi3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Classified gene: FOXI3 as Amber List (moderate evidence)
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Gene: foxi3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.77 FOXI3 Bryony Thompson gene: FOXI3 was added
gene: FOXI3 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXI3 were set to 35987349; 31600545
Phenotypes for gene: FOXI3 were set to thymic dysplasia MONDO:0004195
Review for gene: FOXI3 was set to AMBER
Added comment: 2 cases with loss of function variants in FOXI3 that resulted in abnormal TRECs and T cell lymphopenia. Incomplete penetrance in both families (4 unaffected individuals with variant & 2 affected with variant). Also, 5 families with overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 with similar immunophenotypes that included selective T cell lymphopenia. Also, supporting mouse models. However, due to the incomplete penetrance the gene-disease association remains uncertain.
Sources: Expert list
Combined Immunodeficiency v1.76 COPG1 Zornitza Stark Phenotypes for gene: COPG1 were changed from Combined immunodeficiency MONDO:0015131, COPG1-related to Immunodeficiency 128, MIM# 620983
Combined Immunodeficiency v1.75 COPG1 Zornitza Stark edited their review of gene: COPG1: Changed phenotypes: Immunodeficiency 128, MIM# 620983
Combined Immunodeficiency v1.75 RELB Zornitza Stark Publications for gene: RELB were set to 7834753; 26385063
Combined Immunodeficiency v1.74 RELB Chirag Patel Classified gene: RELB as Green List (high evidence)
Combined Immunodeficiency v1.74 RELB Chirag Patel Gene: relb has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.73 RELB Chirag Patel reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: T-cell and B cell immunodeficiency, Immunodeficiency 53, OMIM #617585,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.73 IL7 Zornitza Stark Marked gene: IL7 as ready
Combined Immunodeficiency v1.73 IL7 Zornitza Stark Gene: il7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.73 IL7 Zornitza Stark Phenotypes for gene: IL7 were changed from Combined Immune deficiency to Combined immunodeficiency, MONDO:0015131, IL7-related
Combined Immunodeficiency v1.72 IL7 Zornitza Stark Classified gene: IL7 as Green List (high evidence)
Combined Immunodeficiency v1.72 IL7 Zornitza Stark Gene: il7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.71 IL7 Zornitza Stark reviewed gene: IL7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency, MONDO:0015131, IL7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.71 IL7 Peter McNaughton gene: IL7 was added
gene: IL7 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL7 were set to PMID: 39352394
Phenotypes for gene: IL7 were set to Combined Immune deficiency
Review for gene: IL7 was set to GREEN
Added comment: 6 patients from 4 kindreds with combined immune deficiency and recurrent infections. Extensive immunophenotyping revealing IL7 dependent and independent development of T cells.
Sources: Literature
Combined Immunodeficiency v1.71 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. to severe combined immunodeficiency 104 MIM#608971
Combined Immunodeficiency v1.70 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Combined Immunodeficiency v1.70 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Combined Immunodeficiency v1.69 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from Combined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related
Combined Immunodeficiency v1.68 ITPR3 Zornitza Stark Marked gene: ITPR3 as ready
Combined Immunodeficiency v1.68 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.68 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from ombined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related
Combined Immunodeficiency v1.68 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from Combined Immune deficiency, immune dysregulation to ombined immunodeficiency, MONDO:0015131, ITPR3-related
Combined Immunodeficiency v1.67 ITPR3 Zornitza Stark Classified gene: ITPR3 as Green List (high evidence)
Combined Immunodeficiency v1.67 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.66 ITPR3 Zornitza Stark reviewed gene: ITPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency, MONDO:0015131, ITPR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.66 ITPR3 Peter McNaughton gene: ITPR3 was added
gene: ITPR3 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: ITPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPR3 were set to PMID: 36302985
Phenotypes for gene: ITPR3 were set to Combined Immune deficiency, immune dysregulation
Review for gene: ITPR3 was set to GREEN
Added comment: Three different variants in two unrelated compound heterozygous patients demonstrated impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and
proliferation. P1 was a 12-year-old male patient who presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. P2 was a 36-year-old male
who presented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous
immunoglobulin. The patient did not show signs of neuromuscular disorder.
Authors suggest a partially recessive mode of inheritance with complete defects in these causing embryonic lethality.
Sources: Literature
Combined Immunodeficiency v1.66 TKFC Zornitza Stark changed review comment from: Single individual reported with homozygous variant.
Sources: Literature; to: Single individual reported with homozygous variant.

Note relationship with syndromic ID also postulated.
Sources: Literature
Combined Immunodeficiency v1.66 TKFC Zornitza Stark Marked gene: TKFC as ready
Combined Immunodeficiency v1.66 TKFC Zornitza Stark Gene: tkfc has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.66 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 38697782
Phenotypes for gene: TKFC were set to Inborn error of immunity, MONDO:0003778, TKFC-related
Review for gene: TKFC was set to RED
Added comment: Single individual reported with homozygous variant.
Sources: Literature
Combined Immunodeficiency v1.65 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from Combined immunodeficiency, MONDO:0015131, POLD1-related; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Immunodeficiency 120, MIM# 620836; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Combined Immunodeficiency v1.64 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed phenotypes: Immunodeficiency 120, MIM# 620836, Low CD4 T cells, Low B cells, normal maturation, recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
Combined Immunodeficiency v1.64 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia to Immunodeficiency 119, MIM# 620825; Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Combined Immunodeficiency v1.63 ICOSLG Zornitza Stark edited their review of gene: ICOSLG: Changed phenotypes: Immunodeficiency 119, MIM# 620825, Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia
Combined Immunodeficiency v1.63 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814
Combined Immunodeficiency v1.62 TAPBP Zornitza Stark edited their review of gene: TAPBP: Changed phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571, MHC class I deficiency 3, MIM# 620814
Combined Immunodeficiency v1.62 TAP2 Zornitza Stark Phenotypes for gene: TAP2 were changed from Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis to MHC class I deficiency 2, MIM# 620813; Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis
Combined Immunodeficiency v1.61 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494, 10395545; Phenotypes: LIG4, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: None
Combined Immunodeficiency v1.61 LCP1 Zornitza Stark Marked gene: LCP1 as ready
Combined Immunodeficiency v1.61 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.61 LCP1 Zornitza Stark Phenotypes for gene: LCP1 were changed from lymphopaenia and neutropaenia to Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Combined Immunodeficiency v1.60 LCP1 Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.60 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.59 LCP1 Zornitza Stark reviewed gene: LCP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome, MONDO:0000159, LCP1-related; Mode of inheritance: None
Combined Immunodeficiency v1.59 LCP1 Peter McNaughton gene: LCP1 was added
gene: LCP1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LCP1 were set to PMID: 38710235
Phenotypes for gene: LCP1 were set to lymphopaenia and neutropaenia
Mode of pathogenicity for gene: LCP1 was set to Other
Review for gene: LCP1 was set to AMBER
Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopaenia, neutropaenia and thrombocytopaenia. Murine model with similar phenotype.
heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Combined Immunodeficiency v1.59 POLD1 Zornitza Stark Publications for gene: POLD1 were set to 31629014
Combined Immunodeficiency v1.58 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Combined immunodeficiency, MONDO:0015131, POLD1-related; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Combined Immunodeficiency v1.57 POLD1 Zornitza Stark Classified gene: POLD1 as Green List (high evidence)
Combined Immunodeficiency v1.57 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.56 POLD1 Zornitza Stark edited their review of gene: POLD1: Added comment: Another family identified in Melbourne: two affected siblings with compound heterozygous variants and combined immunodeficiency.; Changed rating: GREEN
Combined Immunodeficiency v1.56 LCK Zornitza Stark Publications for gene: LCK were set to 22985903; 1579166; 11021796
Combined Immunodeficiency v1.55 LCK Zornitza Stark Classified gene: LCK as Green List (high evidence)
Combined Immunodeficiency v1.55 LCK Zornitza Stark Gene: lck has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.54 LCK Peter McNaughton reviewed gene: LCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38100037, PMID: 27087313; Phenotypes: Combined Immune deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.54 SLC19A1 Elena Savva Classified gene: SLC19A1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.54 SLC19A1 Elena Savva Gene: slc19a1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.53 SLC19A1 Elena Savva Classified gene: SLC19A1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.53 SLC19A1 Elena Savva Gene: slc19a1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.52 SLC19A1 Elena Savva Marked gene: SLC19A1 as ready
Combined Immunodeficiency v1.52 SLC19A1 Elena Savva Gene: slc19a1 has been removed from the panel.
Combined Immunodeficiency v1.52 SLC19A1 Paul De Fazio edited their review of gene: SLC19A1: Changed rating: AMBER
Combined Immunodeficiency v1.52 SLC19A1 Paul De Fazio edited their review of gene: SLC19A1: Changed publications: 36517554, 36745868
Combined Immunodeficiency v1.52 SLC19A1 Paul De Fazio gene: SLC19A1 was added
gene: SLC19A1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 36517554,36745868
Phenotypes for gene: SLC19A1 were set to Combined immunodeficiency, SLC19A1-related MONDO:0015131
Review for gene: SLC19A1 was set to GREEN
gene: SLC19A1 was marked as current diagnostic
Added comment: PMID: 36745868 report two distantly related patients (last common ancestor 5 generations prior) with the same homozygous missense variant, G348R. The variant is absent from gnomAD, although the residue is not conserved in mammals. Both patients experienced severe recurrent infection, neurologic and hematologic disorders, and gastroenteropathy. Functional studies on patient lymphocytes were consistent with reduced transporter activity.

PMID: 36517554 report two cousins with immunodeficiency with the same G348R variant as above. Functional studies on patient cells supported loss of transporter function. The patient’s symptoms ameliorated, and hematological and immunological tests normalized in the 2nd month of folinic acid supplementation.
Sources: Literature
Combined Immunodeficiency v1.52 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from Immune deficiency; Autoinflammation to Immunodeficiency 115 with autoinflammation, MIM# 620632
Combined Immunodeficiency v1.51 RNF31 Zornitza Stark edited their review of gene: RNF31: Changed phenotypes: Immunodeficiency 115 with autoinflammation, MIM# 620632
Combined Immunodeficiency v1.51 RELB Peter McNaughton reviewed gene: RELB: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36402602; Phenotypes: Complex autoimmunity; Mode of inheritance: None
Combined Immunodeficiency v1.51 ARPC5 Zornitza Stark Phenotypes for gene: ARPC5 were changed from Combined immunodeficiency, ARPC5-related MONDO:0015131 to Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565
Combined Immunodeficiency v1.50 ARPC5 Zornitza Stark reviewed gene: ARPC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.50 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Combined Immunodeficiency v1.50 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.50 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Hypogammaglobulinaemia to Nijmegen breakage syndrome-like disorder, MIM# 613078; Hypogammaglobulinaemia
Combined Immunodeficiency v1.49 RAD50 Zornitza Stark Classified gene: RAD50 as Green List (high evidence)
Combined Immunodeficiency v1.49 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.48 RAD50 Peter McNaughton gene: RAD50 was added
gene: RAD50 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to PMID: 37794136
Phenotypes for gene: RAD50 were set to Hypogammaglobulinaemia
Review for gene: RAD50 was set to GREEN
Added comment: In addition to the clinical characteristics of growth retardation, microcephaly, fetal growth restriction and skin manifestations patients develop immune deficiency with variable penetrance characterised by hypogammaglobulinaemia, low naïve T cells and low B cells with low or undetectable κ-deleting recombination excision circles similar to the immune deficiency seen in AT and NBS.
Sources: Literature
Combined Immunodeficiency v1.48 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related
Combined Immunodeficiency v1.47 IRF4 Zornitza Stark Publications for gene: IRF4 were set to 29408330
Combined Immunodeficiency v1.46 IRF4 Zornitza Stark Mode of inheritance for gene: IRF4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v1.45 IRF4 Zornitza Stark Classified gene: IRF4 as Green List (high evidence)
Combined Immunodeficiency v1.45 IRF4 Zornitza Stark Gene: irf4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.44 IRF4 Peter McNaughton reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36662884; Phenotypes: Combined Immune deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v1.44 ERBIN Zornitza Stark Phenotypes for gene: ERBIN were changed from Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some to Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Combined Immunodeficiency v1.43 ERBIN Zornitza Stark edited their review of gene: ERBIN: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ERBIN-related, Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some
Combined Immunodeficiency v1.43 REL Peter McNaughton reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34623332; Phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.43 STAT5B Zornitza Stark Tag somatic tag was added to gene: STAT5B.
Combined Immunodeficiency v1.43 STAT5B Peter McNaughton reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27956386; Phenotypes: Eosinophilia; Mode of inheritance: Other
Combined Immunodeficiency v1.43 CD40 Zornitza Stark Tag treatable tag was added to gene: CD40.
Combined Immunodeficiency v1.43 RELA Zornitza Stark Publications for gene: RELA were set to 28600438; 29305315
Combined Immunodeficiency v1.42 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Combined Immunodeficiency v1.42 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.41 RELA Zornitza Stark edited their review of gene: RELA: Added comment: Additional 6 individuals from five families reported.; Changed rating: GREEN; Changed publications: 28600438, 29305315, 37273177; Changed phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias
Combined Immunodeficiency v1.41 MAP3K14 Zornitza Stark Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels
Combined Immunodeficiency v1.40 ARPC5 Elena Savva Classified gene: ARPC5 as Green List (high evidence)
Combined Immunodeficiency v1.40 ARPC5 Elena Savva Gene: arpc5 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.40 ARPC5 Elena Savva Classified gene: ARPC5 as Green List (high evidence)
Combined Immunodeficiency v1.40 ARPC5 Elena Savva Gene: arpc5 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.39 ARPC5 Elena Savva Marked gene: ARPC5 as ready
Combined Immunodeficiency v1.39 ARPC5 Elena Savva Gene: arpc5 has been removed from the panel.
Combined Immunodeficiency v1.39 ARPC5 Paul De Fazio gene: ARPC5 was added
gene: ARPC5 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC5 were set to 37349293; 37382373
Phenotypes for gene: ARPC5 were set to Combined immunodeficiency, ARPC5-related MONDO:0015131
Review for gene: ARPC5 was set to GREEN
gene: ARPC5 was marked as current diagnostic
Added comment: 4 individuals from 3 families reported with homozygous LoF variants. All had recurrent and severe infections. Other developmental anomalies were present but seemed variable.

PMID:37349293 reports 2 unrelated patients. Both had scoliosis. One had neurodevelopmental delay and brain atrophy. Patient 1 died at 15yo after a sudden episode of hemoptysis and hematochezia. Patient 2 died at 1yo because of progressive neurologic and respiratory disease; an autopsy was not performed.

PMID:37382373 reports 2 patients from the same family. One had multiple congenital anomalies including a congenital heart defect (CHD) (patent foramen ovale), cleft palate, and hypoplastic corpus callosum. The sibling also had CHD (moderate pulmonary stenosis and atrial septal defect).

Functional studies and a mouse model were supportive of the disease association.
Sources: Literature
Combined Immunodeficiency v1.39 NFATC1 Zornitza Stark Marked gene: NFATC1 as ready
Combined Immunodeficiency v1.39 NFATC1 Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.39 NFATC1 Zornitza Stark Phenotypes for gene: NFATC1 were changed from Combined Immune deficiency to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency
Combined Immunodeficiency v1.38 NFATC1 Zornitza Stark Classified gene: NFATC1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.38 NFATC1 Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.37 NFATC1 Peter McNaughton gene: NFATC1 was added
gene: NFATC1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFATC1 were set to PMID: 37249233
Phenotypes for gene: NFATC1 were set to Combined Immune deficiency
Review for gene: NFATC1 was set to AMBER
Added comment: 3 patients from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective.
Single pedigree but supportive functional studies - ?green.
Sources: Literature
Combined Immunodeficiency v1.37 POLD2 Bryony Thompson Phenotypes for gene: POLD2 were changed from Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Combined Immunodeficiency v1.36 POLD2 Bryony Thompson Classified gene: POLD2 as Amber List (moderate evidence)
Combined Immunodeficiency v1.36 POLD2 Bryony Thompson Gene: pold2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.35 POLD2 Bryony Thompson Publications for gene: POLD2 were set to 31449058
Combined Immunodeficiency v1.35 POLD2 Bryony Thompson Classified gene: POLD2 as Amber List (moderate evidence)
Combined Immunodeficiency v1.35 POLD2 Bryony Thompson Gene: pold2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.34 POLD2 Bryony Thompson reviewed gene: POLD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31449058, 36528861; Phenotypes: Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.34 LIG4 Peter McNaughton reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37004747; Phenotypes: Combined immune deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v1.34 LCP2 Zornitza Stark Marked gene: LCP2 as ready
Combined Immunodeficiency v1.34 LCP2 Zornitza Stark Gene: lcp2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.34 LCP2 Zornitza Stark Phenotypes for gene: LCP2 were changed from to Immunodeficiency 81, MIM# 619374
Combined Immunodeficiency v1.33 LCP2 Zornitza Stark reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 81, MIM# 619374; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.33 LCP2 Zornitza Stark Classified gene: LCP2 as Green List (high evidence)
Combined Immunodeficiency v1.33 LCP2 Zornitza Stark Gene: lcp2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.32 Zornitza Stark HPO terms changed from to Combined immunodeficiency, HP:0005387
List of related panels changed from to Combined immunodeficiency; MONDO:0015131; Combined immunodeficiency; HP:0005387
Combined Immunodeficiency v1.31 LCP2 Peter McNaughton gene: LCP2 was added
gene: LCP2 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCP2 were set to PMID: 36474126; PMID: 33231617
Review for gene: LCP2 was set to GREEN
Added comment: 3-year-old child who was born to first-cousins parents and presented with recurrent infections, failure to thrive, and severe EBV-related infection and lymphoproliferation.
Functional testing linking gene with impaired t cell signalling.
Previous unrelated patient reported in PMID: 33231617 with SCID phenotype.
Sources: Literature
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Marked gene: CHUK as ready
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.30 CHUK Zornitza Stark gene: CHUK was added
gene: CHUK was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHUK were set to 34533979
Phenotypes for gene: CHUK were set to Combined immunodeficiency, MONDO:0015131, CHUK-related
Review for gene: CHUK was set to AMBER
Added comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data.
Sources: Literature
Combined Immunodeficiency v1.29 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Combined Immunodeficiency v1.29 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Marked gene: TBCE as ready
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from Combined immune deficiency with syndromic features to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Combined Immunodeficiency v1.27 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Combined Immunodeficiency v1.27 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.26 TBCE Zornitza Stark reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.26 TBCE Peter McNaughton gene: TBCE was added
gene: TBCE was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PMID: 36258138
Phenotypes for gene: TBCE were set to Combined immune deficiency with syndromic features
Review for gene: TBCE was set to GREEN
Added comment: Patients frequently display impaired mitogen responses, T cell-dependent antibody responses, and reduced frequencies of CD4 + and CD8 + effector memory of CD4 + and CD8 + TEMRA and naive B cells, with an increased proportion of CD21lowCD27- B-cell populations.
They suffer from varied bacterial infections in spite of amoxicillin prophylaxis and display opportunistic viral and fungal infections.
Sources: Literature
Combined Immunodeficiency v1.26 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Combined Immunodeficiency v1.26 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Combined Immunodeficiency v1.26 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Combined Immunodeficiency v1.26 ARPC1B Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
Combined Immunodeficiency v1.26 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Combined Immunodeficiency v1.26 TRAC Zornitza Stark Tag founder tag was added to gene: TRAC.
Combined Immunodeficiency v1.26 TRAC Seb Lunke Classified gene: TRAC as Amber List (moderate evidence)
Combined Immunodeficiency v1.26 TRAC Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.25 TRAC Seb Lunke reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Combined Immunodeficiency v1.25 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Combined Immunodeficiency v1.25 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.25 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Combined Immune deficiency to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Combined Immune deficiency
Combined Immunodeficiency v1.24 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Combined Immunodeficiency v1.24 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.23 DIAPH1 Zornitza Stark reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.23 IKZF3 Zornitza Stark Publications for gene: IKZF3 were set to 34155405
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Marked gene: IKZF3 as ready
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Added comment: Comment when marking as ready: Additional family with good segregation data: two families and mouse model, so upgrade to Green.
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Classified gene: IKZF3 as Green List (high evidence)
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Classified gene: IKZF3 as Green List (high evidence)
Combined Immunodeficiency v1.22 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.21 COPG1 Zornitza Stark Classified gene: COPG1 as Amber List (moderate evidence)
Combined Immunodeficiency v1.21 COPG1 Zornitza Stark Gene: copg1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.20 COPG1 Zornitza Stark reviewed gene: COPG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33529166; Phenotypes: Combined immunodeficiency MONDO:0015131, COPG1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.20 COPG1 Zornitza Stark Marked gene: COPG1 as ready
Combined Immunodeficiency v1.20 COPG1 Zornitza Stark Gene: copg1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.20 COPG1 Zornitza Stark Phenotypes for gene: COPG1 were changed from Combined immunodeficiency MONDO:0015131, COPG1-related to Combined immunodeficiency MONDO:0015131, COPG1-related
Combined Immunodeficiency v1.19 COPG1 Zornitza Stark Phenotypes for gene: COPG1 were changed from Combined Immune deficiency to Combined immunodeficiency MONDO:0015131, COPG1-related
Combined Immunodeficiency v1.18 COPG1 Zornitza Stark Classified gene: COPG1 as Red List (low evidence)
Combined Immunodeficiency v1.18 COPG1 Zornitza Stark Gene: copg1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.17 MAN2B2 Zornitza Stark Marked gene: MAN2B2 as ready
Combined Immunodeficiency v1.17 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.17 MAN2B2 Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Combined Immune deficiency to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Combined Immune deficiency
Combined Immunodeficiency v1.16 MAN2B2 Zornitza Stark Classified gene: MAN2B2 as Red List (low evidence)
Combined Immunodeficiency v1.16 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.15 MAN2B2 Zornitza Stark reviewed gene: MAN2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.15 DIAPH1 Peter McNaughton gene: DIAPH1 was added
gene: DIAPH1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIAPH1 were set to PMID: 33662367
Phenotypes for gene: DIAPH1 were set to Combined Immune deficiency
Review for gene: DIAPH1 was set to GREEN
Added comment: 5 Finnish and 2 Omani patients with B and T cell defects
Sources: Literature
Combined Immunodeficiency v1.15 IKZF3 Peter McNaughton reviewed gene: IKZF3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34694366; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v1.15 COPG1 Peter McNaughton gene: COPG1 was added
gene: COPG1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: COPG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPG1 were set to PMID: 33529166
Phenotypes for gene: COPG1 were set to Combined Immune deficiency
Review for gene: COPG1 was set to RED
Added comment: Five Omani siblings, born to consanguineous parents
Sources: Literature
Combined Immunodeficiency v1.15 MAN2B2 Peter McNaughton gene: MAN2B2 was added
gene: MAN2B2 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to PMID: 31775018
Phenotypes for gene: MAN2B2 were set to Combined Immune deficiency
Review for gene: MAN2B2 was set to RED
Added comment: Single syndromic patient with combined immune deficiency
Sources: Literature
Combined Immunodeficiency v1.15 SASH3 Zornitza Stark Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082
Combined Immunodeficiency v1.14 SASH3 Zornitza Stark edited their review of gene: SASH3: Changed phenotypes: Immunodeficiency 102, MIM# 301082
Combined Immunodeficiency v1.14 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Combined Immunodeficiency v1.13 TLR8 Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Combined Immunodeficiency v1.13 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Combined Immunodeficiency v1.12 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant
Combined Immunodeficiency v1.12 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 to Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Combined Immunodeficiency v1.11 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Combined Immunodeficiency v1.11 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Combined Immunodeficiency v1.10 FNIP1 Zornitza Stark edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, Neutropenia, Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Combined Immunodeficiency v1.10 FNIP1 Zornitza Stark edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, NeutropeniaImmunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.9 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679
Review for gene: PI4KA was set to AMBER
Added comment: 8 families reported with biallelic variants in this gene (Salter et al 2021). Affected individuals presented with CNS abnormalities but also with immune deficits (2 individuals from separate families) and intestinal disease (multiple families, including IBD, and 1 family with multiple intestinal atresia).
Sources: Literature
Combined Immunodeficiency v1.8 CRACR2A Seb Lunke Marked gene: CRACR2A as ready
Combined Immunodeficiency v1.8 CRACR2A Seb Lunke Gene: cracr2a has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.8 CRACR2A Seb Lunke Phenotypes for gene: CRACR2A were changed from HP:0005387; late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; late onset combined immunodeficiency
Combined Immunodeficiency v1.7 CRACR2A Seb Lunke Classified gene: CRACR2A as Red List (low evidence)
Combined Immunodeficiency v1.7 CRACR2A Seb Lunke Gene: cracr2a has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.6 CRACR2A Dean Phelan gene: CRACR2A was added
gene: CRACR2A was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRACR2A were set to PMID:34908525
Phenotypes for gene: CRACR2A were set to HP:0005387; late onset combined immunodeficiency
Review for gene: CRACR2A was set to RED
Added comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.

Further search did not identify any additional publications.
Sources: Literature
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Marked gene: SGPL1 as ready
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Classified gene: SGPL1 as Green List (high evidence)
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.5 SGPL1 Seb Lunke gene: SGPL1 was added
gene: SGPL1 was added to Combined Immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 33074640
Phenotypes for gene: SGPL1 were set to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Review for gene: SGPL1 was set to GREEN
gene: SGPL1 was marked as current diagnostic
Added comment: From Gene Reviews: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy. Steroid-resistant nephrotic syndrome (37/46), Immunodeficiency (31/46), Primary adrenal insufficiency (31/46), cryptorchidism and/or micropenis (6/26), Developmental delay (9/46), Regression/progressive neurologic involvement (6/46), Peripheral motor & sensory neuropathy (5/46). Other symptoms include ichthyosis, SNHL, Hypothyroidism.
Sources: Expert Review, Literature
Combined Immunodeficiency v1.4 REL Zornitza Stark Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Combined Immunodeficiency v1.3 REL Zornitza Stark Publications for gene: REL were set to 31103457
Combined Immunodeficiency v1.2 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Combined Immunodeficiency v1.2 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.2 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Combined Immunodeficiency v1.2 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.1 REL Zornitza Stark edited their review of gene: REL: Added comment: Second unrelated individual reported, with a different homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity
Combined Immunodeficiency v1.1 TOM1 Zornitza Stark Marked gene: TOM1 as ready
Combined Immunodeficiency v1.1 TOM1 Zornitza Stark Gene: tom1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.1 TOM1 Zornitza Stark gene: TOM1 was added
gene: TOM1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOM1 were set to 31263572
Phenotypes for gene: TOM1 were set to Immunodeficiency 85 and autoimmunity, MIM# 619510
Review for gene: TOM1 was set to RED
Added comment: Parent and child reported with onset of atopic eczema and recurrent respiratory infections in the first decade of life; autoimmune enteropathy with vomiting, diarrhoea, and poor overall growth. More variable features included autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies showed hypogammaglobulinaemia and abnormal T-cell function, consistent with a combined immunodeficiency. Missense variant in TOM1, with limited functional data.
Sources: Expert list
Combined Immunodeficiency v1.0 Zornitza Stark promoted panel to version 1.0
Combined Immunodeficiency v0.394 WAS Zornitza Stark Marked gene: WAS as ready
Combined Immunodeficiency v0.394 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.394 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Neutropaenia, severe congenital, X-linked MIM# 300299; Wiskott-Aldrich syndrome MIM# 301000; Thrombocytopaenia, X-linked MIM# 313900
Combined Immunodeficiency v0.393 WAS Zornitza Stark Publications for gene: WAS were set to
Combined Immunodeficiency v0.392 WAS Zornitza Stark Mode of pathogenicity for gene: WAS was changed from to Other
Combined Immunodeficiency v0.391 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.390 TBX1 Zornitza Stark Tag SV/CNV tag was added to gene: TBX1.
Combined Immunodeficiency v0.390 TBX1 Zornitza Stark Marked gene: TBX1 as ready
Combined Immunodeficiency v0.390 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.390 TBX1 Zornitza Stark Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity
Combined Immunodeficiency v0.389 TBX1 Zornitza Stark Publications for gene: TBX1 were set to
Combined Immunodeficiency v0.388 TBX1 Zornitza Stark Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.387 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Combined Immunodeficiency v0.387 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.387 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, autosomal dominant 4 MIM# 615190; Dyskeratosis congenita, autosomal recessive 5 MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373
Combined Immunodeficiency v0.386 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Combined Immunodeficiency v0.385 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.384 RMRP Zornitza Stark Marked gene: RMRP as ready
Combined Immunodeficiency v0.384 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.384 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from to Cartilage hair hypoplasia (CHH) MIM#250250; shortened limbs; short stature; metaphysical dysplasia; fine, sparse and/or light-coloured hair; hematologic abnormalities; CID; impaired lymphocyte proliferation; low Ig levels; antibodies variably decreased; bone marrow failure; autoimmunity; susceptibility to lymphoma and other cancers; impaired spermatogenesis; neuronal dysplasia of the intestine
Combined Immunodeficiency v0.383 RMRP Zornitza Stark Publications for gene: RMRP were set to
Combined Immunodeficiency v0.382 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.381 LIG4 Danielle Ariti edited their review of gene: LIG4: Changed phenotypes: LIG4 syndrome MIM# 606593, T-/B- lymphocytopaenia, Normal NK, radiation sensitivity, Microcephaly, low/ absent B and T cells, low Ig, raised IgM, failure to thrive, bacterial/viral/fungal infections, hypogammaglobulinaemia, neurodevelopmental delay, microcephaly, pancytopaenia
Combined Immunodeficiency v0.381 IKBKG Danielle Ariti reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242109, 11047757, 29855039, 15833888, 28993958, 15577852; Phenotypes: Ectodermal dysplasia and immunodeficiency 1 MIM# 300291, Immunodeficiency 33 MIM# 300636; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.381 IKBKG Danielle Ariti Deleted their review
Combined Immunodeficiency v0.381 IKBKG Danielle Ariti edited their review of gene: IKBKG: Added comment: Ectodermal dysplasia with immunodeficiency
Over 12 families have been identified with IKBKG variants
Individuals typically present within the first year of life with recurrent infections (pneumonia, bacterial infections of the bone and soft tissue), elevated IgM and ectodermal dysplasia features (sparse scalp and body hair, reduced ability to sweat, and conical teeth)
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Immunodeficiency-33 and no ectodermal dysplasia
10 unrelated individuals been reported with IKBKG variants
Characterised by early-onset severe infections, hypogammaglobulinaemia, decreased IgG and impaired antibody response to multiple vaccinations.
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Multiple null IKBKG mouse models demonstrating both disease phenotypes AND
Hemizygous (insertion, slice site, deletion and missense) variants have been reported in association with both diseases, causing premature stop codons; most common variants are splice-site; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.381 CD40LG Danielle Ariti changed review comment from: Well-established gene-disease association; more than 20 unrelated individuals and multiple CD40LG deficient mouse models demonstrate an association with X-linked recessive hyper IgM syndrome.
Heterozygous females are characteristically asymptomatic (normal immunoglobulin levels); however, there have been rare cases of affected females expressing clinical phenotypes due to skewed X-chromosome inactivation (PMID: 16311023 & 9933119)

Variants identified include missense, in-frame indel, nonsense, frameshift, large deletion and complex rearrangements resulting in LOF.

Typical immunological profile includes decreased IgG/IgA/IgE levels with normal-increased IgM levels, resulting in susceptibility to severe and opportunistic viral/bacterial infections.; to: Well-established gene-disease association; more than 20 unrelated individuals and multiple CD40LG deficient mouse models demonstrate an association with X-linked recessive hyper IgM syndrome.
Heterozygous females are characteristically asymptomatic (normal immunoglobulin levels); however, there have been rare cases of affected females expressing clinical phenotypes due to skewed X-chromosome inactivation (PMID: 16311023 & 9933119)

Variants identified include missense, in-frame indel, nonsense, frameshift, large deletion and complex rearrangements resulting in LOF.

Typical immunological profile includes decreased IgG/IgA/IgE levels with normal-increased IgM levels, resulting in susceptibility to severe and opportunistic viral/bacterial infections.
Combined Immunodeficiency v0.381 WAS Danielle Ariti reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11242115, 19006568, 16804117, 8069912, 10575547, 7579329, 7795648, 23807894; Phenotypes: Neutropenia, severe congenital, X-linked MIM# 300299, Wiskott-Aldrich syndrome MIM# 301000, Thrombocytopenia, X-linked MIM# 313900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Combined Immunodeficiency v0.381 RFX5 Zornitza Stark Marked gene: RFX5 as ready
Combined Immunodeficiency v0.381 RFX5 Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.381 RFX5 Zornitza Stark Phenotypes for gene: RFX5 were changed from to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
Combined Immunodeficiency v0.380 RFX5 Zornitza Stark Publications for gene: RFX5 were set to
Combined Immunodeficiency v0.379 RFX5 Zornitza Stark Mode of inheritance for gene: RFX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.378 TBX1 Danielle Ariti changed review comment from: Well-established disease-gene association with DiGeorge syndrome and Velocardiofacial syndrome; multiple mouse models

Most common micro-deletion syndrome (22q11.2 Deletion Syndrome) which can lead to diverse clinical features comprising a triad of immunodeficiency, hypoparathyroidism, and congenital heart defect in addition to renal anomalies, autoimmunity etc. Velocardiofacial syndrome presenting with the majority of physical malformations (cleft palate, prominent tubular nose, narrow palpebral fissures, and retruded mandible etc).

Immunodeficiency is present in the majority of patients with 22q11.2 Deletion Syndrome and is the second leading cause of death in these patients.; to: Well-established disease-gene association with DiGeorge syndrome and Velocardiofacial syndrome; multiple mouse models

Most common micro-deletion syndrome (22q11.2 Deletion Syndrome) which can lead to diverse clinical features comprising a triad of immunodeficiency, hypoparathyroidism, and congenital heart defect in addition to renal anomalies, autoimmunity etc. Velocardiofacial syndrome presenting with the majority of physical malformations (cleft palate, prominent tubular nose, narrow palpebral fissures, and retruded mandible etc).

Immunodeficiency is present in the majority of patients with 22q11.2 Deletion Syndrome and is the second leading cause of death in these patients.
Combined Immunodeficiency v0.378 TBX1 Danielle Ariti reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301696, 31830774, 16684884; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430, Decreased T cells, Hypoparathyroidism, Conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies (cleft palate, prominent tubular nose etc), intellectual disability, Immunodeficiency, thymic hypoplasia or aplasia with resultant T‐cell dysfunction, renal anomalies, autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.378 RTEL1 Danielle Ariti reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301779, 23329068, 15210109, 23453664, 19461895, 25848748, 25607374; Phenotypes: Dyskeratosis congenita, autosomal dominant 4 MIM# 615190, Dyskeratosis congenita, autosomal recessive 5 MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.378 RMRP Danielle Ariti reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014; Phenotypes: Cartilage hair hypoplasia (CHH) MIM#250250, shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities, CID, impaired lymphocyte proliferation, low Ig levels, antibodies variably decreased, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.378 RFX5 Danielle Ariti reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9401005, 29527204, 30170160, 7990905, 8642248, 7699327; Phenotypes: Bare lymphocyte syndrome, type II, complementation group C MIM# 209920, Bare lymphocyte syndrome, type II, complementation group E MIM# 209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.378 RAG2 Zornitza Stark Marked gene: RAG2 as ready
Combined Immunodeficiency v0.378 RAG2 Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.378 RAG2 Zornitza Stark Phenotypes for gene: RAG2 were changed from to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650
Combined Immunodeficiency v0.377 RAG2 Zornitza Stark Publications for gene: RAG2 were set to
Combined Immunodeficiency v0.376 RAG2 Zornitza Stark Mode of inheritance for gene: RAG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.375 RAG1 Zornitza Stark Marked gene: RAG1 as ready
Combined Immunodeficiency v0.375 RAG1 Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.375 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Combined Immunodeficiency v0.374 RAG1 Zornitza Stark Publications for gene: RAG1 were set to
Combined Immunodeficiency v0.373 RAG1 Zornitza Stark Mode of inheritance for gene: RAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.372 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Combined Immunodeficiency v0.372 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.372 RAC2 Zornitza Stark Phenotypes for gene: RAC2 were changed from to Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203; Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986
Combined Immunodeficiency v0.372 RAC2 Zornitza Stark Publications for gene: RAC2 were set to 21167572; 10758162; 10072071; 25512081; 32542921; 31919089
Combined Immunodeficiency v0.371 RAC2 Zornitza Stark Publications for gene: RAC2 were set to
Combined Immunodeficiency v0.370 RAC2 Zornitza Stark Mode of pathogenicity for gene: RAC2 was changed from to Other
Combined Immunodeficiency v0.369 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.368 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Combined Immunodeficiency v0.368 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.368 MTHFD1 Zornitza Stark Phenotypes for gene: MTHFD1 were changed from to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780; Decreased Ig levels; poor antibody responses to conjugated polysaccharide antigens; low B/T/NK cells; Recurrent bacterial infection; megaloblastic anaemia; failure to thrive; neutropenia; seizures; intellectual disability; folate-responsive; Lymphopaenia
Combined Immunodeficiency v0.367 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to
Combined Immunodeficiency v0.366 MTHFD1 Zornitza Stark Mode of inheritance for gene: MTHFD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.366 MTHFD1 Zornitza Stark Mode of inheritance for gene: MTHFD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.365 RAG2 Danielle Ariti reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9630231, 11313270, 31885011, 8810255, 15025726, 18463379; Phenotypes: Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457, Combined cellular and humoral immune defects with granulomas MIM# 233650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.365 RAC2 Danielle Ariti changed review comment from: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
2 unrelated individuals; mono-allelic; loss of function; One mouse model; functional studies

Both individuals carried a de novo heterozygous missense variant (p.Asp57Asn), resulting in an impaired GTP binding domain and loss of function.

Both individuals presented from birth with recurrent perirectal/ paratracheal abscesses, failure to heal surgical wounds, and the absence of pus in infected areas, in addition to leukocytosis and neutrophilia.
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Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia
Only one family (2 sibs) has been reported; bi-allelic; loss of function; one mouse model.

They were homozygous for a nonsense variant p.Trp56Ter (W56X), resulting in premature termination and loss of function.

Clinical history included recurrent respiratory infections leading to the development of bronchiectasis, urticaria, factor XI deficiency, and hypothyroidism.

Their immunologic presentation showed a progression from selective IgA deficiency to Hypogammaglobulinaemia of all classes leading to a diagnosis of CVID.
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Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia
13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models

Mono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)

These individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia.
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Amber- Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis (loss of function)
Amber- Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia (loss of function)
Green- Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia (gain of function); to: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
2 unrelated individuals; mono-allelic; loss of function; One mouse model; functional studies

Both individuals carried a de novo heterozygous missense variant (p.Asp57Asn), resulting in an impaired GTP binding domain and loss of function.

Both individuals presented from birth with recurrent perirectal/ paratracheal abscesses, failure to heal surgical wounds, and the absence of pus in infected areas, in addition to leukocytosis and neutrophilia.
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Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia
Only one family (2 sibs) has been reported; bi-allelic; loss of function; one mouse model.

They were homozygous for a nonsense variant p.Trp56Ter (W56X), resulting in premature termination and loss of function.

Clinical history included recurrent respiratory infections leading to the development of bronchiectasis, urticaria, factor XI deficiency, and hypothyroidism.

Their immunologic presentation showed a progression from selective IgA deficiency to Hypogammaglobulinaemia of all classes leading to a diagnosis of CVID.
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Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia
13 individuals from 8 unrelated families; mono-allelic; gain of function; multiple mouse models

Mono-allelic missense variants were reported in each individual (5 x De Novo) and resulted in a gain-of -function. (E62K, P34H, N92T, G12R)

These individuals typically presented in infancy with frequent infections, profound leukopaenia, lymphopaenia diarrhoea and hypogammaglobulinaemia.
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Amber- Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis (Mono-allelic; loss of function)
Red- Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia (Bi-allelic; loss of function)
Green- Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia (Mono-allelic; gain of function)
Combined Immunodeficiency v0.365 RAG1 Danielle Ariti reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16276422, 18463379, 20489056, 9630231, 11313270, 17476359, 8810255, 6823332; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.365 RAC2 Danielle Ariti reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21167572, 10758162, 10072071, 25512081, 32542921, 31919089; Phenotypes: Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203, Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987, Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.365 MTHFD1 Danielle Ariti reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780, Decreased Ig levels, poor antibody responses to conjugated polysaccharide antigens, low B/T/NK cells, Recurrent bacterial infection, megaloblastic anaemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive, Lymphopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.365 POLD2 Zornitza Stark Marked gene: POLD2 as ready
Combined Immunodeficiency v0.365 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.365 PARN Zornitza Stark Marked gene: PARN as ready
Combined Immunodeficiency v0.365 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.365 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Combined Immunodeficiency v0.364 PARN Zornitza Stark Publications for gene: PARN were set to
Combined Immunodeficiency v0.363 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.362 PARN Zornitza Stark edited their review of gene: PARN: Changed publications: 25893599, 26342108, 25848748, 32452087
Combined Immunodeficiency v0.362 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.362 NFE2L2 Zornitza Stark Marked gene: NFE2L2 as ready
Combined Immunodeficiency v0.362 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.362 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Combined Immunodeficiency v0.362 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.362 LIG1 Zornitza Stark Marked gene: LIG1 as ready
Combined Immunodeficiency v0.362 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.362 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Combined Immunodeficiency v0.362 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.362 FOXN1 Zornitza Stark Marked gene: FOXN1 as ready
Combined Immunodeficiency v0.362 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.362 FOXN1 Zornitza Stark Phenotypes for gene: FOXN1 were changed from to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
Combined Immunodeficiency v0.361 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Combined Immunodeficiency v0.361 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.361 MAGT1 Zornitza Stark Phenotypes for gene: MAGT1 were changed from to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853; XMEN; Low CD4; inverted CD4/CD8 ratio; reduced MAIT cells; poor proliferation to CD3; decreased memory B cells; progressive hypogammaglobulinaemia; reduced NK cell; EBV infection; lymphoma; viral infections; respiratory and GI infections; Glycosylation defects
Combined Immunodeficiency v0.360 MAGT1 Zornitza Stark Publications for gene: MAGT1 were set to
Combined Immunodeficiency v0.359 MAGT1 Zornitza Stark Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.358 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Combined Immunodeficiency v0.358 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.358 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1 MIM# 300291; Immunodeficiency 33 MIM# 300636
Combined Immunodeficiency v0.357 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Combined Immunodeficiency v0.356 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.355 MAGT1 Danielle Ariti reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24550228, 31036665, 32451662; Phenotypes: Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853, XMEN, Low CD4, inverted CD4/CD8 ratio, reduced MAIT cells, poor proliferation to CD3, decreased memory B cells, progressive hypogammaglobulinaemia, reduced NK cell, EBV infection, lymphoma, viral infections, respiratory and GI infections, Glycosylation defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Combined Immunodeficiency v0.355 IKBKG Danielle Ariti reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242109, 11047757, 29855039, 15833888, 28993958, 15577852; Phenotypes: Ectodermal dysplasia and immunodeficiency 1 MIM# 300291, Immunodeficiency 33 MIM# 300636; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Combined Immunodeficiency v0.355 DCLRE1C Zornitza Stark Publications for gene: DCLRE1C were set to 15731174; 19953608; 15699179 12055248; 34220820
Combined Immunodeficiency v0.354 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Combined Immunodeficiency v0.354 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.354 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome MIM# 603554
Combined Immunodeficiency v0.353 DCLRE1C Zornitza Stark Publications for gene: DCLRE1C were set to
Combined Immunodeficiency v0.352 DCLRE1C Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.351 DCLRE1B Zornitza Stark Marked gene: DCLRE1B as ready
Combined Immunodeficiency v0.351 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.351 DCLRE1B Zornitza Stark Phenotypes for gene: DCLRE1B were changed from to Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome
Combined Immunodeficiency v0.350 DCLRE1B Zornitza Stark Publications for gene: DCLRE1B were set to
Combined Immunodeficiency v0.349 DCLRE1B Zornitza Stark Classified gene: DCLRE1B as Red List (low evidence)
Combined Immunodeficiency v0.349 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.348 ATM Zornitza Stark Marked gene: ATM as ready
Combined Immunodeficiency v0.348 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.348 ATM Zornitza Stark Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia MIM# 208900; Progressive T cell decrease, poor T-cell proliferation to mitogens; low IgA, IgE and IgG; increased IgM monomers; antibodies variably decreased; Ataxia; telangiectasia especially of sclerae; pulmonary infections; lymphoreticular and other malignancies; increased alpha fetoprotein; increased radiosensitivity, chromosomal instability and chromosomal translocations
Combined Immunodeficiency v0.347 ATM Zornitza Stark Publications for gene: ATM were set to
Combined Immunodeficiency v0.346 ATM Zornitza Stark Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.345 DCLRE1C Danielle Ariti reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15731174, 19953608, 15699179 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.345 DCLRE1C Danielle Ariti Deleted their review
Combined Immunodeficiency v0.345 DCLRE1C Danielle Ariti reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 15731174, 19953608; Phenotypes: Omenn syndrome MIM# 603554, Absent B cells, normal-elevated T-cells, normal-elevated NK cells, severe combined immunodeficiency (SCID), erythrodermia, hepatosplenomegaly, lymphadenopathy, alopecia, radiosensitivity, elevated IgE, elevated eosinophilia, dermatitis, failure to thrive, recurrent respiratory infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.345 DCLRE1B Danielle Ariti reviewed gene: DCLRE1B: Rating: RED; Mode of pathogenicity: None; Publications: 20479256, 21647296; Phenotypes: Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome MIM# 616353; Mode of inheritance: Unknown
Combined Immunodeficiency v0.345 ATM Danielle Ariti reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301790, 27884168, 8689683; Phenotypes: Ataxia-telangiectasia MIM# 208900, Progressive T cell decrease, poor T-cell proliferation to mitogens, low IgA, IgE and IgG, increased IgM monomers, antibodies variably decreased, Ataxia, telangiectasia especially of sclerae, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.345 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Combined Immunodeficiency v0.345 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.345 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to 21596365; 21906047; 27626380 32061411
Combined Immunodeficiency v0.344 ZBTB24 Zornitza Stark Phenotypes for gene: ZBTB24 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069; Facial dysmorphic features; developmental delay; macroglossia; bacterial/opportunistic infections; malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia or agammaglobulinaemia; variable antibody deficiency
Combined Immunodeficiency v0.343 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to
Combined Immunodeficiency v0.342 ZBTB24 Zornitza Stark Mode of inheritance for gene: ZBTB24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.341 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Combined Immunodeficiency v0.341 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.341 WIPF1 Zornitza Stark Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent
Combined Immunodeficiency v0.340 WIPF1 Zornitza Stark Publications for gene: WIPF1 were set to
Combined Immunodeficiency v0.339 WIPF1 Zornitza Stark Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.338 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Combined Immunodeficiency v0.338 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.338 TCN2 Zornitza Stark Phenotypes for gene: TCN2 were changed from to Transcobalamin II deficiency MIM# 275350; Decreased Ig levels; Megaloblastic anaemia; pancytopaenia; if untreated (B12) for prolonged periods results in intellectual disability; failure to thrive; diarrhoea; hypogammaglobulinaemia; pallor; hypotonia; respiratory infection
Combined Immunodeficiency v0.337 TCN2 Zornitza Stark Publications for gene: TCN2 were set to
Combined Immunodeficiency v0.336 TCN2 Zornitza Stark Mode of inheritance for gene: TCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.335 TAP2 Zornitza Stark Marked gene: TAP2 as ready
Combined Immunodeficiency v0.335 TAP2 Zornitza Stark Gene: tap2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.335 TAP2 Zornitza Stark Phenotypes for gene: TAP2 were changed from to Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis
Combined Immunodeficiency v0.334 TAP2 Zornitza Stark Publications for gene: TAP2 were set to
Combined Immunodeficiency v0.333 TAP2 Zornitza Stark Mode of inheritance for gene: TAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.332 TAP1 Zornitza Stark Marked gene: TAP1 as ready
Combined Immunodeficiency v0.332 TAP1 Zornitza Stark Gene: tap1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.332 TAP1 Zornitza Stark Phenotypes for gene: TAP1 were changed from to Bare lymphocyte syndrome, type I MIM#604571; Low CD8; absent MHC I on lymphocytes; vasculitis; pyoderma gangrenosum; skin lesions; recurrent respiratory tract infections; bronchiectasis
Combined Immunodeficiency v0.331 TAP1 Zornitza Stark Publications for gene: TAP1 were set to 28161407; 10074494; 1473153
Combined Immunodeficiency v0.330 TAP1 Zornitza Stark Publications for gene: TAP1 were set to
Combined Immunodeficiency v0.330 TAP1 Zornitza Stark Mode of inheritance for gene: TAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.329 TAP1 Zornitza Stark Mode of inheritance for gene: TAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 ZBTB24 Danielle Ariti reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21596365, 21906047, 27626380 32061411; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069, Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopaenia, malignancies, multiradial configurations of chromosomes 1, 9, 16, Hypogammaglobulinaemia or agammaglobulinaemia, variable antibody deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 WIPF1 Danielle Ariti reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, gastrointestinal bleeding, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 WIPF1 Danielle Ariti Deleted their review
Combined Immunodeficiency v0.328 WIPF1 Danielle Ariti reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 TCN2 Danielle Ariti reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM# 275350, Decreased Ig levels, Megaloblastic anaemia, pancytopaenia, if untreated (B12) for prolonged periods results in intellectual disability, failure to thrive, diarrhoea, hypogammaglobulinaemia, pallor, hypotonia, respiratory infection; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 TAP2 Danielle Ariti reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7517574, 9232449, 10560675, 27861817; Phenotypes: Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571, Low CD8, absent MHC I on lymphocytes, Vasculitis, pyoderma gangrenosum, recurrent bacterial/viral respiratory infections, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 TAP1 Danielle Ariti reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28161407, 10074494, 1473153; Phenotypes: Bare lymphocyte syndrome, type I MIM#604571, Low CD8, absent MHC I on lymphocytes, vasculitis, pyoderma gangrenosum, skin lesions, recurrent respiratory tract infections, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.328 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Combined Immunodeficiency v0.328 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.328 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Combined Immunodeficiency v0.327 STAT3 Zornitza Stark Publications for gene: STAT3 were set to
Combined Immunodeficiency v0.326 STAT3 Zornitza Stark Mode of pathogenicity for gene: STAT3 was changed from to Other
Combined Immunodeficiency v0.325 STAT3 Zornitza Stark Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.324 STK4 Zornitza Stark Marked gene: STK4 as ready
Combined Immunodeficiency v0.324 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.324 STK4 Zornitza Stark Phenotypes for gene: STK4 were changed from to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868; CD4/CD8 lymphopaenia; cardiac malformations; reduced naïve T cells; increased TEM and TEMRA cells; poor T cell Proliferation; Reduced memory B cells; Reduced IgM, increased IgG, IgA, IgE; impaired antibody responses; intermittent neutropaenia; bacterial/ viral/ fungal infections; autoimmune cytopaenias; mucocutaneous candidiasis; cutaneous warts
Combined Immunodeficiency v0.323 STK4 Zornitza Stark Publications for gene: STK4 were set to
Combined Immunodeficiency v0.322 STK4 Zornitza Stark Mode of inheritance for gene: STK4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.322 STK4 Zornitza Stark Mode of inheritance for gene: STK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.321 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Combined Immunodeficiency v0.321 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.321 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from to Netherton syndrome MIM# 256500; Low switched and non-switched B cells; High IgE and IgA; Antibody variably decreased; Congenital ichthyosis; bamboo hair; atopic diathesis; increased bacterial infections; failure to thrive; food allergies
Combined Immunodeficiency v0.320 SPINK5 Zornitza Stark Publications for gene: SPINK5 were set to
Combined Immunodeficiency v0.319 SPINK5 Zornitza Stark Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.318 SP110 Zornitza Stark Marked gene: SP110 as ready
Combined Immunodeficiency v0.318 SP110 Zornitza Stark Gene: sp110 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.318 SP110 Zornitza Stark Phenotypes for gene: SP110 were changed from to Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Hepatic veno-occlusive disease; susceptibility to Pneumocystis jirovecii pneumonia; cytomegalovirus; thrombocytopaenia; hepatosplenomegaly; cerebrospinal leukodystrophy; memory T/B cell deficiency; low Ig levels; absent tissue plasma cells; absent lymph node germinal centers; hypogammaglobulinaemia
Combined Immunodeficiency v0.317 SP110 Zornitza Stark Tag founder tag was added to gene: SP110.
Combined Immunodeficiency v0.317 SP110 Zornitza Stark Publications for gene: SP110 were set to
Combined Immunodeficiency v0.316 SP110 Zornitza Stark Mode of inheritance for gene: SP110 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.315 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Combined Immunodeficiency v0.315 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.315 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from to Schimke immune-osseous dysplasia MIM# 242900; T cell deficiency; Short stature; spondyloepiphyseal dysplasia; renal dysfunction; lymphocytopaenia; nephropathy; bacterial/viral/fungal infections; may present as SCID; bone marrow failure
Combined Immunodeficiency v0.314 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Combined Immunodeficiency v0.313 SMARCAL1 Zornitza Stark Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.312 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Combined Immunodeficiency v0.312 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.312 SLC46A1 Zornitza Stark Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary MIM# 229050; Decreased Ig levels; megaloblastic anaemia; failure to thrive; Immunodeficiency; if untreated for prolonged periods results in intellectual disability; oral mucositis; hypoimmunoglobulinaemia; recurrent infections; seizures; motor impairment; leukopaenia; thrombocytopaenia
Combined Immunodeficiency v0.311 SLC46A1 Zornitza Stark Publications for gene: SLC46A1 were set to
Combined Immunodeficiency v0.310 SLC46A1 Zornitza Stark Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.309 SLC46A1 Zornitza Stark Tag founder tag was added to gene: SLC46A1.
Combined Immunodeficiency v0.309 STAT3 Danielle Ariti changed review comment from: Well-established disease-gene association for hyper-IgE syndrome; identified heterozygous STAT3 variants in over 50 familial and sporadic cases; dominant-negative loss of function; multiple mouse models

Hyper IgE individuals presented with the triad of staphylococcal abscesses, pneumonia with pneumatocele formation, and extremely elevated IgE.


15 unrelated families with Autoimmune disease, multisystem, infantile-onset, 1; 13 STAT3 variants identified (5 were de novo); gain of function; multiple mouse models

Autoimmune disease, multisystem, infantile-onset, 1 individuals exhibited various clinical features, with most presenting with lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, infections, and short stature.

STAT3 monoallelic variants were missense and in-frame deletions in both diseases.

(Hyper IgE- Loss of Function AND Autoimmune disease- Gain of function); to: Well-established disease-gene association for hyper-IgE syndrome; identified heterozygous STAT3 variants in over 50 familial and sporadic cases; dominant-negative loss of function; multiple mouse models

Hyper IgE individuals presented with the triad of staphylococcal abscesses, pneumonia with pneumatocele formation, and extremely elevated IgE.

15 unrelated families with Autoimmune disease, multisystem, infantile-onset, 1; 13 STAT3 variants identified (5 were de novo); gain of function; multiple mouse models

Autoimmune disease, multisystem, infantile-onset, 1 individuals exhibited various clinical features, with most presenting with lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, infections, and short stature.

STAT3 monoallelic variants were missense and in-frame deletions in both diseases.

(Hyper IgE- Loss of Function AND Autoimmune disease- Gain of function)
Combined Immunodeficiency v0.309 STAT3 Danielle Ariti reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17881745, 14566054, 25349174, 25038750, 25359994; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.309 STAT3 Danielle Ariti Deleted their review
Combined Immunodeficiency v0.309 STAT3 Danielle Ariti edited their review of gene: STAT3: Added comment: 18 individuals from 15 unrelated families; Multiple mouse models

All 13 heterozygous variants reported have been missense or in-frame deletions that result in a gain of function; 5 of these de novo

Individuals exhibited various clinical features, with most presenting with lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, infections, and short stature.; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 25349174, 25038750, 25359994, 16783372; Changed phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952, Lymphoproliferation, solid organ autoimmunity, recurrent infections, short stature, eczema, delayed puberty, dental abnormalities, autoimmune cytopaenias, juvenile-onset arthritis, primary hypothyroidism
Combined Immunodeficiency v0.309 STAT3 Danielle Ariti reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17881745, 14566054, 15194489; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, NKT cells decreased, Very high IgE, specific antibody production decreased, Distinctive facial features (broad nasal bridge), bacterial infections, staphylococcal abscesses, eczema, mucocutaneous candidiasis, hyperextensible joints, osteoporosis and bone fractures, scoliosis, retained primary teeth, coronary and cerebral aneurysms; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.309 STK4 Danielle Ariti reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868, CD4/CD8 lymphopaenia, cardiac malformations, reduced naïve T cells, increased TEM and TEMRA cells, poor T cell Proliferation, Reduced memory B cells, Reduced IgM, increased IgG, IgA, IgE, impaired antibody responses, intermittent neutropaenia, bacterial/ viral/ fungal infections, autoimmune cytopaenias, mucocutaneous candidiasis, cutaneous warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.309 SPINK5 Danielle Ariti reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33534181, 20657595; Phenotypes: Netherton syndrome MIM# 256500, Low switched and non-switched B cells, High IgE and IgA, Antibody variably decreased, Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive, food allergies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.309 SP110 Danielle Ariti reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 31721003; Phenotypes: Hepatic veno-occlusive disease with immunodeficiency MIM#235550, Hepatic veno-occlusive disease, susceptibility to Pneumocystis jirovecii pneumonia, cytomegalovirus, thrombocytopaenia, hepatosplenomegaly, cerebrospinal leukodystrophy, memory T/B cell deficiency, low Ig levels, absent tissue plasma cells, absent lymph node germinal centers, hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.309 SMARCAL1 Danielle Ariti reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301550, 17089404, 20036229; Phenotypes: Schimke immune-osseous dysplasia MIM# 242900, T cell deficiency, Short stature, spondyloepiphyseal dysplasia, renal dysfunction, lymphocytopaenia, nephropathy, bacterial/viral/fungal infections, may present as SCID, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.309 SLC46A1 Danielle Ariti reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary MIM# 229050, Decreased Ig levels, megaloblastic anaemia, failure to thrive, Immunodeficiency, if untreated for prolonged periods results in intellectual disability, oral mucositis, hypoimmunoglobulinaemia, recurrent infections, seizures, motor impairment, leukopaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.309 RNF168 Zornitza Stark Marked gene: RNF168 as ready
Combined Immunodeficiency v0.309 RNF168 Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.309 RNF168 Zornitza Stark Phenotypes for gene: RNF168 were changed from to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly
Combined Immunodeficiency v0.308 RNF168 Zornitza Stark Publications for gene: RNF168 were set to
Combined Immunodeficiency v0.307 RNF168 Zornitza Stark Mode of inheritance for gene: RNF168 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.306 RFXAP Zornitza Stark Marked gene: RFXAP as ready
Combined Immunodeficiency v0.306 RFXAP Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.306 RFXAP Zornitza Stark Phenotypes for gene: RFXAP were changed from to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia
Combined Immunodeficiency v0.305 RFXAP Zornitza Stark Publications for gene: RFXAP were set to
Combined Immunodeficiency v0.304 RFXAP Zornitza Stark Mode of inheritance for gene: RFXAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.303 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Combined Immunodeficiency v0.303 RFXANK Zornitza Stark Gene: rfxank has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.303 RFXANK Zornitza Stark Phenotypes for gene: RFXANK were changed from to MHC class II deficiency, complementation group B MIM# 209920; Bare Lymphocyte Syndrome, type II, complementation group B; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia
Combined Immunodeficiency v0.302 RFXANK Zornitza Stark Publications for gene: RFXANK were set to
Combined Immunodeficiency v0.301 RFXANK Zornitza Stark Mode of inheritance for gene: RFXANK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.300 RFXANK Zornitza Stark Tag founder tag was added to gene: RFXANK.
Combined Immunodeficiency v0.300 RBCK1 Zornitza Stark Marked gene: RBCK1 as ready
Combined Immunodeficiency v0.300 RBCK1 Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.300 RBCK1 Zornitza Stark Phenotypes for gene: RBCK1 were changed from to Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia
Combined Immunodeficiency v0.299 RBCK1 Zornitza Stark Publications for gene: RBCK1 were set to
Combined Immunodeficiency v0.298 RBCK1 Zornitza Stark Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.297 PNP Zornitza Stark Marked gene: PNP as ready
Combined Immunodeficiency v0.297 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.297 PNP Zornitza Stark Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179; Autoimmune hemolytic anaemia; neurological impairment; SCID; CID; hypouricaemia; failure to thrive; chronic diarrhoea; recurrent respiratory/ gastrointestinal infections; normal-low Ig levels; spastic paresis; tremor; ataxia; DD
Combined Immunodeficiency v0.296 PNP Zornitza Stark Publications for gene: PNP were set to
Combined Immunodeficiency v0.295 PNP Zornitza Stark Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.294 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Combined Immunodeficiency v0.294 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.294 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2 MIM# 613987; Shortened telomeres; Leukoplakia; Nail dystrophy; Bone marrow failure; Pancytopaenia; reticulate skin pigmentation; Thrombocytopaenia; recurrent opportunistic infections
Combined Immunodeficiency v0.293 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Combined Immunodeficiency v0.292 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 NHP2 Zornitza Stark changed review comment from: Third family reported with extreme end of the spectrum of DKC,; to: Third family reported with extreme end of the spectrum of DKC, Høyeraal-Hreidarsson syndrome.
Combined Immunodeficiency v0.291 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MIM# 613987, Shortened telomeres, Leukoplakia, Nail dystrophy, Bone marrow failure, Pancytopaenia, reticulate skin pigmentation, Thrombocytopaenia, recurrent opportunistic infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 RNF168 Danielle Ariti reviewed gene: RNF168: Rating: GREEN; Mode of pathogenicity: None; Publications: 19203578, 21394101, 29255463, 21552324; Phenotypes: RIDDLE syndrome MIM# 611943, Radiosensitivity, Immune Deficiency, Dysmorphic Features, Learning difficulties, Low IgG or IgA, Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 RFXAP Danielle Ariti reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9118943, 32875002, 11258423; Phenotypes: Bare lymphocyte syndrome, type II, complementation group D MIM# 209920, Low CD4+ T cells, reduced MHC II expression on lymphocytes, Normal-low Ig levels, Failure to thrive, respiratory/gastrointestinal infections, liver/biliary tract disease, diarrhoea, Severe autoimmune cytopaenia, agammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 RFXANK Danielle Ariti reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618906; Phenotypes: MHC class II deficiency, complementation group B MIM# 209920, Bare Lymphocyte Syndrome, type II, complementation group B, Low CD4+ T cells, reduced MHC II expression on lymphocytes, Normal-low Ig levels, Failure to thrive, respiratory/gastrointestinal infections, liver/biliary tract disease, diarrhoea, Severe autoimmune cytopaenia, agammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 RBCK1 Danielle Ariti reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29260357, 29695863; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895, muscular weakness, cardiomyopathy, recurrent bacterial/viral infections, autoinflammation, immunodeficiency, Poor antibody responses to polysaccharides, failure to thrive, fever, pneumonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 PNP Danielle Ariti reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22132981, 9122228, 10859343; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179, Autoimmune hemolytic anaemia, neurological impairment, SCID, CID, hypouricaemia, failure to thrive, chronic diarrhoea, recurrent respiratory/ gastrointestinal infections, normal-low Ig levels, spastic paresis, tremor, ataxia, DD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 NHP2 Danielle Ariti reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301779, 18523010; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MIM# 613987, Shortened telomeres, Leukoplakia, Nail dystrophy, Bone marrow failure, Pancytopaenia, reticulate skin pigmentation, Thrombocytopaenia, recurrent opportunistic infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.291 RGS10 Zornitza Stark Marked gene: RGS10 as ready
Combined Immunodeficiency v0.291 RGS10 Zornitza Stark Gene: rgs10 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.291 RGS10 Zornitza Stark Publications for gene: RGS10 were set to 34315806
Combined Immunodeficiency v0.290 RGS10 Zornitza Stark changed review comment from: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented.
Sources: Literature; to: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented. Further experimental data linking RGS10 to immune function presented in PMID 34339853.
Sources: Literature
Combined Immunodeficiency v0.290 RGS10 Zornitza Stark edited their review of gene: RGS10: Changed publications: 34315806, 34339853
Combined Immunodeficiency v0.290 RGS10 Zornitza Stark gene: RGS10 was added
gene: RGS10 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: RGS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS10 were set to 34315806
Phenotypes for gene: RGS10 were set to Immunodeficiency; short stature
Review for gene: RGS10 was set to RED
Added comment: Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented.
Sources: Literature
Combined Immunodeficiency v0.289 NFKBIA Zornitza Stark Marked gene: NFKBIA as ready
Combined Immunodeficiency v0.289 NFKBIA Zornitza Stark Gene: nfkbia has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.289 NFKBIA Zornitza Stark Phenotypes for gene: NFKBIA were changed from to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132; Ectodermal dysplasia; TCR/ BCR activation impaired; low memory and isotype switched B cells; decreased IgG and IgA; elevated IgM; poor specific antibody responses; diarrhoea; agammaglobulinaemia; ectodermal dysplasia; recurrent respiratory and gastrointestinal infections; colitis; variable defects of skin, hair and teeth
Combined Immunodeficiency v0.288 NFKBIA Zornitza Stark Publications for gene: NFKBIA were set to
Combined Immunodeficiency v0.287 NFKBIA Zornitza Stark Mode of pathogenicity for gene: NFKBIA 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
Combined Immunodeficiency v0.286 NFKBIA Zornitza Stark Mode of inheritance for gene: NFKBIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.285 NFKB2 Zornitza Stark Marked gene: NFKB2 as ready
Combined Immunodeficiency v0.285 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.285 NFKB2 Zornitza Stark Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Combined Immunodeficiency v0.284 NFKB2 Zornitza Stark Publications for gene: NFKB2 were set to
Combined Immunodeficiency v0.283 NFKB2 Zornitza Stark Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.282 NFKB1 Zornitza Stark Marked gene: NFKB1 as ready
Combined Immunodeficiency v0.282 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.282 NFKB1 Zornitza Stark Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia
Combined Immunodeficiency v0.281 NFKB1 Zornitza Stark Publications for gene: NFKB1 were set to
Combined Immunodeficiency v0.280 NFKB1 Zornitza Stark Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.279 MCM4 Zornitza Stark Tag founder tag was added to gene: MCM4.
Combined Immunodeficiency v0.279 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Combined Immunodeficiency v0.279 MCM4 Zornitza Stark Gene: mcm4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.279 MCM4 Zornitza Stark Phenotypes for gene: MCM4 were changed from to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy
Combined Immunodeficiency v0.278 MCM4 Zornitza Stark Publications for gene: MCM4 were set to
Combined Immunodeficiency v0.277 MCM4 Zornitza Stark Mode of inheritance for gene: MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.276 MCM4 Zornitza Stark Classified gene: MCM4 as Amber List (moderate evidence)
Combined Immunodeficiency v0.276 MCM4 Zornitza Stark Gene: mcm4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.275 MAP3K14 Zornitza Stark Marked gene: MAP3K14 as ready
Combined Immunodeficiency v0.275 MAP3K14 Zornitza Stark Added comment: Comment when marking as ready: Extensive functional characterisation in mouse models, see also PMIDs 10319865; 11238593; 12352969, hence Green rating with two families reported only.
Combined Immunodeficiency v0.275 MAP3K14 Zornitza Stark Gene: map3k14 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.275 MAP3K14 Zornitza Stark Publications for gene: MAP3K14 were set to 25406581; 29230214; 11251123
Combined Immunodeficiency v0.274 MAP3K14 Zornitza Stark Phenotypes for gene: MAP3K14 were changed from to NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels
Combined Immunodeficiency v0.273 MAP3K14 Zornitza Stark Publications for gene: MAP3K14 were set to
Combined Immunodeficiency v0.272 MAP3K14 Zornitza Stark Mode of inheritance for gene: MAP3K14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.271 LRBA Zornitza Stark Marked gene: LRBA as ready
Combined Immunodeficiency v0.271 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.271 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700; Normal-decreased CD4 numbers; T cell dysregulation; Low-normal B cells; Reduced IgG and IgA; Recurrent infections; chronic diarrhoea; inflammatory bowel disease; hypogammaglobulinaemia; pneumonitis; autoimmune disorders; thrombocytopaenia
Combined Immunodeficiency v0.270 LRBA Zornitza Stark Publications for gene: LRBA were set to
Combined Immunodeficiency v0.269 LRBA Zornitza Stark Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.268 NFKBIA Danielle Ariti changed review comment from: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).

Functional studies & two mouse models; demonstrate reported NFKBIA
gain-of-function variants resulting in impaired NFKB1 activity.

The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).; to: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).

Functional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity.

The majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).
Combined Immunodeficiency v0.268 NFKBIA Danielle Ariti reviewed gene: NFKBIA: 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: 28597146, 23864385, 23708964; Phenotypes: Ectodermal dysplasia and immunodeficiency 2 MIM# 612132, Ectodermal dysplasia, TCR/ BCR activation impaired, low memory and isotype switched B cells, decreased IgG and IgA, elevated IgM, poor specific antibody responses, diarrhoea, agammaglobulinaemia, ectodermal dysplasia, recurrent respiratory and gastrointestinal infections, colitis, variable defects of skin, hair and teeth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.268 NFKB2 Danielle Ariti reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140114, 24888602, 25524009, 31417880; Phenotypes: Immunodeficiency, common variable, 10 MIM# 615577, Low serum IgG, IgA, IgM, low B cell numbers, low switched memory B cells, Recurrent sinopulmonary infections, Alopecia, endocrinopathies, ACTH deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.268 NFKB1 Danielle Ariti reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26279205, 32278790, 27022143, 7834752; Phenotypes: Immunodeficiency, common variable, 12 MIM# 616576, Normal-low IgG, IgA, IgM, low-normal B cells, low switched memory B cells, hypogammaglobulinaemia, recurrent respiratory and gastrointestinal infections, Chronic obstructive pulmonary disease COPD, EBV proliferation, autoimmunity, alopecia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.268 MCM4 Danielle Ariti reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54 MIM# 609981, Decreased NK cell number and function, Viral infections (EBV, HSV, VZV), Short stature, B cell lymphoma, Adrenal failure, Failure to thrive, Microcephaly, Increased chromosomal breakage, Hyperpigmentation, Lymphadenopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.268 MAP3K14 Danielle Ariti reviewed gene: MAP3K14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25406581, 29230214, 11251123; Phenotypes: NIK deficiency, Poor T cell proliferation to antigen, Low B-cell numbers, Low NK number and function, recurrent bacterial/viral/ cryptosporidium infections, hypogammaglobulinaemia, decreased immunoglobulin levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.268 LRBA Danielle Ariti changed review comment from: Over 10 unrelated individuals with LRBA variants displaying immunodeficiency phenotype; one mouse model.

Reported homozygous truncating variants (missense/ nonsense).

Most reported individuals displayed reduced IgG and IgA, autoimmune disorders, hypogammaglobulinemia and recurrent infections.; to: Over 10 unrelated individuals with LRBA variants displaying immunodeficiency phenotype; one mouse model.

Reported homozygous truncating variants (missense/ nonsense).

Most reported individuals displayed reduced IgG and IgA, autoimmune disorders, hypogammaglobulinaemia and recurrent infections.
Combined Immunodeficiency v0.268 LRBA Danielle Ariti reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700, Normal-decreased CD4 numbers, T cell dysregulation, Low-normal B cells, Reduced IgG and IgA, Recurrent infections, chronic diarrhoea, inflammatory bowel disease, hypogammaglobulinaemia, pneumonitis, autoimmune disorders, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.268 ITK Zornitza Stark Marked gene: ITK as ready
Combined Immunodeficiency v0.268 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.268 ITK Zornitza Stark Phenotypes for gene: ITK were changed from to Lymphoproliferative syndrome 1 MIM# 613011; Lymphadenopathy; Recurrent infections; Hypogammaglobulinaemia; Evidence of EBV infection; EBV associated B cell Lymphoproliferation; High EBV viral load; Normal-low serum Ig; Depleted CD4+ T cells; Anaemia; Thrombocytopaenia; Hepatosplenomegaly
Combined Immunodeficiency v0.267 ITK Zornitza Stark Publications for gene: ITK were set to
Combined Immunodeficiency v0.266 ITK Zornitza Stark Mode of inheritance for gene: ITK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.265 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Combined Immunodeficiency v0.265 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.265 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome MIM# 606593; T-/B- lymphocytopaenia; Normal NK, radiation sensitivity; Microcephaly; low B/C cells; low Ig; raised IgM; failure to thrive; bacterial/viral/fungal infections; hypogammaglobulinaemia; neurodevelopmental delay; microcephaly; pancytopaenia
Combined Immunodeficiency v0.264 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Combined Immunodeficiency v0.263 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.262 IL7R Zornitza Stark Marked gene: IL7R as ready
Combined Immunodeficiency v0.262 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.262 IL7R Zornitza Stark Phenotypes for gene: IL7R were changed from to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers.
Combined Immunodeficiency v0.261 IL7R Zornitza Stark Publications for gene: IL7R were set to
Combined Immunodeficiency v0.260 IL7R Zornitza Stark Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.259 MALT1 Danielle Ariti Deleted their comment
Combined Immunodeficiency v0.259 MALT1 Danielle Ariti edited their review of gene: MALT1: Added comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency.

Variants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains.

All individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation.; Changed rating: GREEN
Combined Immunodeficiency v0.259 MALT1 Zornitza Stark Phenotypes for gene: MALT1 were changed from Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive to Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive
Combined Immunodeficiency v0.259 MALT1 Zornitza Stark Marked gene: MALT1 as ready
Combined Immunodeficiency v0.259 MALT1 Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.259 MALT1 Zornitza Stark Phenotypes for gene: MALT1 were changed from to Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive
Combined Immunodeficiency v0.258 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Combined Immunodeficiency v0.258 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.258 MALT1 Zornitza Stark Publications for gene: MALT1 were set to
Combined Immunodeficiency v0.257 MALT1 Zornitza Stark Mode of inheritance for gene: MALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.256 IL2RG Zornitza Stark Phenotypes for gene: IL2RG were changed from to Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia
Combined Immunodeficiency v0.255 IL2RG Zornitza Stark Publications for gene: IL2RG were set to 20301584; 8462096; 8401490; 7883965; 9399950
Combined Immunodeficiency v0.255 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Combined Immunodeficiency v0.255 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.255 IKZF1 Zornitza Stark Phenotypes for gene: IKZF1 were changed from to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset
Combined Immunodeficiency v0.254 IL2RG Zornitza Stark Publications for gene: IL2RG were set to
Combined Immunodeficiency v0.254 IKZF1 Zornitza Stark Publications for gene: IKZF1 were set to 21548011; 26981933; 29889099; 31057532; 7923373; 11805317
Combined Immunodeficiency v0.253 IL2RG Zornitza Stark Mode of inheritance for gene: IL2RG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.253 IKZF1 Zornitza Stark Publications for gene: IKZF1 were set to
Combined Immunodeficiency v0.253 IL2RG Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.252 IKZF1 Zornitza Stark Mode of inheritance for gene: IKZF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.252 IKZF1 Zornitza Stark Mode of inheritance for gene: IKZF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.251 LIG4 Danielle Ariti reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27717373, 10911993; Phenotypes: LIG4 syndrome MIM# 606593, T-/B- lymphocytopaenia, Normal NK, radiation sensitivity, Microcephaly, low B/C cells, low Ig, raised IgM, failure to thrive, bacterial/viral/fungal infections, hypogammaglobulinaemia, neurodevelopmental delay, microcephaly, pancytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.251 IL7R Danielle Ariti changed review comment from: 6 unrelated individuals with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported).

Two IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia

Typical patient immunological phenotype consisted of Low B-cells, decreased immunoglobulins with normal-high B/NK cell numbers.; to: 6 unrelated individuals with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported.

Two IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia

Typical patient immunological phenotype consisted of Low B-cells, decreased immunoglobulins with normal-high B/NK cell numbers.
Combined Immunodeficiency v0.251 IL7R Danielle Ariti reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843216, 19890784, 26123418, 11023514, 7964471; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971, fever, rash, failure to thrive, recurrent respiratory and gastric infections, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, low T-cell numbers, decreased immunoglobulins, normal-high B/NK-cell numbers.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.251 ITK Danielle Ariti reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011, Lymphadenopathy, Recurrent infections, Hypogammaglobulinaemia, Evidence of EBV infection, EBV associated B cell Lymphoproliferation, High EBV viral load, Normal-low serum Ig, Depleted CD4+ T cells, Anaemia, Thrombocytopaenia, Hepatosplenomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.251 MALT1 Danielle Ariti reviewed gene: MALT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM# 615468, poor T-cell proliferation, normal T/B cell numbers, poor specific antibody response, recurrent bacterial/fungal/viral infections, bronchiectasis, failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.251 IL2RG Danielle Ariti reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301584, 8462096, 8401490, 7883965, 9399950; Phenotypes: Combined immunodeficiency, X-linked, moderate MIM# 312863, Severe combined immunodeficiency, X-linked MIM# 300400, recurrent viral/fungal/bacterial infections, Low T/NK cells, Low Ig levels, lymphocytopaenia, hypogammaglobulinaemia, failure to thrive, diarrhoea, Pneumonia, Thymic hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.251 IKZF1 Danielle Ariti reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317; Phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.251 IKZF3 Zornitza Stark Marked gene: IKZF3 as ready
Combined Immunodeficiency v0.251 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.251 IKZF3 Zornitza Stark Classified gene: IKZF3 as Amber List (moderate evidence)
Combined Immunodeficiency v0.251 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.250 IKZF3 Zornitza Stark Classified gene: IKZF3 as Amber List (moderate evidence)
Combined Immunodeficiency v0.250 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.249 IKZF3 Zornitza Stark gene: IKZF3 was added
gene: IKZF3 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF3 were set to 34155405
Phenotypes for gene: IKZF3 were set to Immunodeficiency 84, MIM# 619437
Review for gene: IKZF3 was set to AMBER
Added comment: Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood.

Mouse model recapitulated phenotype.
Sources: Literature
Combined Immunodeficiency v0.248 ICOS Zornitza Stark Marked gene: ICOS as ready
Combined Immunodeficiency v0.248 ICOS Zornitza Stark Gene: icos has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.248 ICOS Zornitza Stark Phenotypes for gene: ICOS were changed from to Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea
Combined Immunodeficiency v0.247 ICOS Zornitza Stark Publications for gene: ICOS were set to
Combined Immunodeficiency v0.246 ICOS Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.245 ICOS Zornitza Stark Tag SV/CNV tag was added to gene: ICOS.
Combined Immunodeficiency v0.245 LCK Zornitza Stark Marked gene: LCK as ready
Combined Immunodeficiency v0.245 LCK Zornitza Stark Gene: lck has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.245 LCK Zornitza Stark Phenotypes for gene: LCK were changed from to Immunodeficiency 22 MIM# 615758; Recurrent infections; Immune dysregulation; autoimmunity; Low CD4+; low CD8+; restricted T cell repertoire; poor TCR signaling; Normal IgG/IgA; high IgM; failure to thrive; diarrhoea; lymphopenia; hypogammaglobulinemia; anaemia; thrombocytopaenia; CD4+ T-cell lymphopenia
Combined Immunodeficiency v0.244 LCK Zornitza Stark Publications for gene: LCK were set to
Combined Immunodeficiency v0.243 LCK Zornitza Stark Mode of inheritance for gene: LCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.242 LCK Zornitza Stark Classified gene: LCK as Amber List (moderate evidence)
Combined Immunodeficiency v0.242 LCK Zornitza Stark Gene: lck has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.241 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Combined Immunodeficiency v0.241 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.241 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis
Combined Immunodeficiency v0.240 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Combined Immunodeficiency v0.239 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.238 DOCK2 Zornitza Stark Marked gene: DOCK2 as ready
Combined Immunodeficiency v0.238 DOCK2 Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.238 DOCK2 Zornitza Stark Phenotypes for gene: DOCK2 were changed from to Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels
Combined Immunodeficiency v0.237 DOCK2 Zornitza Stark Publications for gene: DOCK2 were set to
Combined Immunodeficiency v0.236 DOCK2 Zornitza Stark Mode of inheritance for gene: DOCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.235 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Combined Immunodeficiency v0.235 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.235 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860; facial dysmorphic features; flat nasal bridge; developmental delay; macroglossia; bacterial/opportunistic infections (recurrent); malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia; agammaglobulinaemia; variable antibody deficiency; decreased immunoglobulin production; low T/B/NK cells
Combined Immunodeficiency v0.234 DNMT3B Zornitza Stark Publications for gene: DNMT3B were set to
Combined Immunodeficiency v0.233 DNMT3B Zornitza Stark Mode of inheritance for gene: DNMT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 ICOS Danielle Ariti changed review comment from: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.

Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.

Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. However, phenotypic expression is highly variable, with some individuals only displaying immunological phenotypes.; to: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.

Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.

Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. However, phenotypic expression is highly variable, with some individuals only displaying immunological phenotypes.
Combined Immunodeficiency v0.232 ICOS Danielle Ariti reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056, 15507387, 19380800, 28861081, 31858365, 11343122, 16982935; Phenotypes: Immunodeficiency, common variable, 1 MIM# 607594, recurrent bacterial respiratory/gastrointestinal infections, autoimmunity, gastroenteritis, low IgG/IgA, normal-low IgM, hypogammaglobulinaemia, low-normal B-cells, normal T-cells, Bronchitis, Lymphadenopathy, Hepatomegaly, Diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 LCK Danielle Ariti reviewed gene: LCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 22985903, 1579166, 11021796; Phenotypes: Immunodeficiency 22 MIM# 615758, Recurrent infections, Immune dysregulation, autoimmunity, Low CD4+, low CD8+, restricted T cell repertoire, poor TCR signaling, Normal IgG/IgA, high IgM, failure to thrive, diarrhoea, lymphopenia, hypogammaglobulinemia, anaemia, thrombocytopaenia, CD4+ T-cell lymphopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 DOCK8 Danielle Ariti reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700, T cell Lymphopaenia, decraese T/B/NK cells, Eosinophilia, low IgM, elevated IgE, recurrent cutaneous/ viral/ bacterial/ fungal/ infections, severe atopy/allergic disease, autoimmune haemolytic anaemia, eczema, cancer diathesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 DOCK2 Danielle Ariti reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364, 30838481, 11518968; Phenotypes: Immunodeficiency 40 MIM# 616433, T/B-cell lymphopaenia, early-onset invasive herpes/viral/bacterial Infections, function defects in T/B/NK cells, immunodeficiency, defective IFN-mediated immunity, elevated IgM, normal IgG/IgA levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 DNMT3B Danielle Ariti reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20587527, 10555141, 17359920, 9718351, 10647011, 11102980, 12239717; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860, facial dysmorphic features, flat nasal bridge, developmental delay, macroglossia, bacterial/opportunistic infections (recurrent), malabsorption, cytopaenia, malignancies, multiradial configurations of chromosomes 1, 9, 16, Hypogammaglobulinaemia, agammaglobulinaemia, variable antibody deficiency, decreased immunoglobulin production, low T/B/NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 CD3G Danielle Ariti changed review comment from: 10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.

All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features, whilst other CD3G-deficient individuals were in healthy condition decades into life. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.; to: 10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.

All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features, whilst other CD3G- deficient individuals only display immunological phenotype and no other features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.
Combined Immunodeficiency v0.232 CD27 Danielle Ariti changed review comment from: 17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model

Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic or display borderline-low hypogammaglobulinaemia.; to: 17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model

Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic-borderline low hypogammaglobulinaemia.
Combined Immunodeficiency v0.232 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Combined Immunodeficiency v0.232 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.232 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked MIM# 305000; Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, immunodeficiency; aplastic anaemia; thrombocytopaenia; neurodevelopmental delay; cerebellar hypoplasia; opportunistic infections
Combined Immunodeficiency v0.231 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Combined Immunodeficiency v0.230 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.229 CIITA Zornitza Stark Marked gene: CIITA as ready
Combined Immunodeficiency v0.229 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.229 DKC1 Danielle Ariti changed review comment from: More than 20 affected unrelated individuals have been reported; multiple mouse models.

Heterozygous non-frameshift deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val.

Typically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies.

PMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes; to: More than 20 affected unrelated individuals have been reported; multiple mouse models.

Heterozygous deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val.

Typically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies.

PMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes
Combined Immunodeficiency v0.229 CIITA Zornitza Stark Phenotypes for gene: CIITA were changed from to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920; varied ID; bronchiolitis; pneumonia; severe autoimmune cytopaenia; CD4 T-cell lymphopaenia; hypogammaglobulinemia; absence of antigen-induced immune response; chronic diarrhoea; recurrent respiratory infections; recurrent gastroenteritis; failure to thrive; liver/biliary tract disease
Combined Immunodeficiency v0.228 CIITA Zornitza Stark Publications for gene: CIITA were set to
Combined Immunodeficiency v0.227 CIITA Zornitza Stark Mode of inheritance for gene: CIITA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.226 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Combined Immunodeficiency v0.226 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.226 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome MIM# 214800; Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370; Kallmann syndrome; hypogonadotropic hypogonadism with or without anosmia (HH); Coloboma of the eye; heart anomaly; choanal atresia; intellectual disability; genital and ear anomalies, Deafness; Delayed pubertal development; CNS malformation; Cleft lip; SCID-like features; lymphopaenia; sever T-cell deficiency; hypogammaglobulinaemia
Combined Immunodeficiency v0.225 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Combined Immunodeficiency v0.224 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours
Combined Immunodeficiency v0.222 CD40LG Zornitza Stark Publications for gene: CD40LG were set to
Combined Immunodeficiency v0.221 CD40LG Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.220 CD3G Zornitza Stark Marked gene: CD3G as ready
Combined Immunodeficiency v0.220 CD3G Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.220 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea. to Immunodeficiency 17, CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.
Combined Immunodeficiency v0.219 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from to Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.
Combined Immunodeficiency v0.218 CD3G Zornitza Stark Publications for gene: CD3G were set to
Combined Immunodeficiency v0.217 CD3G Zornitza Stark Mode of inheritance for gene: CD3G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.216 DKC1 Danielle Ariti reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9590285, 24914498, 22664374, 10700698, 21931702, 15842668, 12400016, 15240872, 9663235; Phenotypes: Dyskeratosis congenita, X-linked MIM# 305000, Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, immunodeficiency, aplastic anaemia, thrombocytopaenia, neurodevelopmental delay, cerebellar hypoplasia, opportunistic infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.216 CIITA Danielle Ariti reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893, 9099848, 11862382, 28676232, 24789686, 20197681, 11466404, 15821736, 12910265; Phenotypes: Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920, varied ID, bronchiolitis, pneumonia, severe autoimmune cytopaenia, CD4 T-cell lymphopaenia, hypogammaglobulinemia, absence of antigen-induced immune response, chronic diarrhoea, recurrent respiratory infections, recurrent gastroenteritis, failure to thrive, liver/biliary tract disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.216 CHD7 Danielle Ariti reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15300250, 26551301, 26538304, 20186815, 17334657; Phenotypes: CHARGE syndrome MIM# 214800, Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370, Kallmann syndrome, hypogonadotropic hypogonadism with or without anosmia (HH), Coloboma of the eye, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, Deafness, Delayed pubertal development, CNS malformation, Cleft lip, SCID-like features, lymphopaenia, sever T-cell deficiency, hypogammaglobulinaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.216 CD40LG Danielle Ariti reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230, Severe opportunistic infections (recurrent), idiopathic neutropaenia, dysgammaglobulinaemia hepatitis, cholangitis, cholangiocarcinoma, autoimmune blood cytopenias, haemolytic anaemia, thrombocytopaenia, diarrhoea, peripheral neuroectodermal tumours; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.216 CD3G Danielle Ariti reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: None; Publications: 2872416, 1635567, 17277165, 23590417, 24910257, 18482219, 31921117, 11160319; Phenotypes: Immunodeficiency 17, CD3 gamma deficient MIM# 615607, immune deficiency, autoimmunity, failure to thrive, recurrent gastrointestinal infections, recurrent respiratory infections, autoimmune haemolytic anaemia, Bronchiolitis obliterans, low CD3 complex, partial T lymphocytopenia, intractable diarrhoea.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.216 CD27 Zornitza Stark Marked gene: CD27 as ready
Combined Immunodeficiency v0.216 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.216 CD27 Zornitza Stark Phenotypes for gene: CD27 were changed from to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia
Combined Immunodeficiency v0.215 CD27 Zornitza Stark Publications for gene: CD27 were set to
Combined Immunodeficiency v0.214 CD27 Zornitza Stark Mode of inheritance for gene: CD27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.213 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Combined Immunodeficiency v0.213 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.213 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia
Combined Immunodeficiency v0.212 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Combined Immunodeficiency v0.212 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.211 BLM Zornitza Stark Marked gene: BLM as ready
Combined Immunodeficiency v0.211 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.211 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies
Combined Immunodeficiency v0.210 BLM Zornitza Stark Publications for gene: BLM were set to
Combined Immunodeficiency v0.209 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.208 CD27 Danielle Ariti reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, CD27-deficiency MIM# 615122, hepatosplenomegaly, reduced CD8+ T-cell function, lymphadenopathy, hepatosplenomegaly, fever, increased susceptibility to EBV infection, aplastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.208 CCBE1 Danielle Ariti reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.208 BLM Danielle Ariti reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900, Short stature, dysmorphic facies, sun-sensitive, immunoglobulin deficiency (IgA, IgG, IgM), erythema, marrow failure, leukaemia, lymphoma, chromosomal instability, predisposition to malignancies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.208 ADA Zornitza Stark Marked gene: ADA as ready
Combined Immunodeficiency v0.208 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.208 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Combined Immunodeficiency v0.207 ADA Zornitza Stark Publications for gene: ADA were set to
Combined Immunodeficiency v0.206 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.205 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.205 B2M Zornitza Stark Phenotypes for gene: B2M were changed from Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434 to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434
Combined Immunodeficiency v0.204 B2M Zornitza Stark Marked gene: B2M as ready
Combined Immunodeficiency v0.204 B2M Zornitza Stark Gene: b2m has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.204 B2M Zornitza Stark Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434
Combined Immunodeficiency v0.203 B2M Zornitza Stark Publications for gene: B2M were set to
Combined Immunodeficiency v0.202 B2M Zornitza Stark Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.201 B2M Danielle Ariti reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, - Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.201 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Marked gene: AK2 as ready
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness
Combined Immunodeficiency v0.199 AK2 Zornitza Stark Publications for gene: AK2 were set to
Combined Immunodeficiency v0.198 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.197 AK2 Danielle Ariti changed review comment from: PMID: 19043417. 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416. 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.; to: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature
Combined Immunodeficiency v0.197 AK2 Danielle Ariti reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis MIM# 267500, Combined immunodeficiency, neutropenia, leukopenia, lymphopenia, agranulocytosis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Marked gene: SASH3 as ready
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Classified gene: SASH3 as Green List (high evidence)
Combined Immunodeficiency v0.197 SASH3 Zornitza Stark Gene: sash3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.196 SASH3 Zornitza Stark gene: SASH3 was added
gene: SASH3 was added to Combined Immunodeficiency. 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
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Marked gene: IL21R as ready
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from Immunodeficiency 56, MIM# 615207 to Immunodeficiency 56, MIM# 615207
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207
Combined Immunodeficiency v0.194 IL21R Zornitza Stark Publications for gene: IL21R were set to
Combined Immunodeficiency v0.193 IL21R Zornitza Stark Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.192 IL21R Zornitza Stark reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Marked gene: KMT2A as ready
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Gene: kmt2a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Classified gene: KMT2A as Amber List (moderate evidence)
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Gene: kmt2a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.191 KMT2A Bryony Thompson gene: KMT2A was added
gene: KMT2A was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2A were set to 32048120; 28623346; 27320412
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130
Review for gene: KMT2A was set to AMBER
Added comment: 4 cases with combined immunodeficiency from 2 unrelated families.
Sources: Expert list
Combined Immunodeficiency v0.190 KDM6A Bryony Thompson Classified gene: KDM6A as Green List (high evidence)
Combined Immunodeficiency v0.190 KDM6A Bryony Thompson Gene: kdm6a has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.189 KDM6A Bryony Thompson gene: KDM6A was added
gene: KDM6A was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: KDM6A 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: KDM6A were set to 31363182; 32048120
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867
Review for gene: KDM6A was set to GREEN
Added comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations
Sources: Expert list
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Marked gene: KMT2D as ready
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Gene: kmt2d has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Classified gene: KMT2D as Green List (high evidence)
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Gene: kmt2d has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.187 KMT2D Bryony Thompson gene: KMT2D was added
gene: KMT2D was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31363182; 32048120
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 MIM#147920
Review for gene: KMT2D was set to GREEN
Added comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations
Sources: Expert list
Combined Immunodeficiency v0.186 TGFBR2 Bryony Thompson Classified gene: TGFBR2 as Green List (high evidence)
Combined Immunodeficiency v0.186 TGFBR2 Bryony Thompson Added comment: Comment on list classification: IUIS CID gene
Combined Immunodeficiency v0.186 TGFBR2 Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Marked gene: TGFBR2 as ready
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Classified gene: TGFBR2 as Green List (high evidence)
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.184 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR2 were set to 24333532; 23884466; 32048120
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 MIM#610168
Mode of pathogenicity for gene: TGFBR2 was set to Other
Review for gene: TGFBR2 was set to GREEN
Added comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR2 pathogenic missense variants.
Sources: Expert list
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Marked gene: TGFBR1 as ready
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Classified gene: TGFBR1 as Green List (high evidence)
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Added comment: Comment on list classification: IUIS CID gene
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.182 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR1 were set to 24333532; 23884466; 32048120
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 MIM#609192
Mode of pathogenicity for gene: TGFBR1 was set to Other
Review for gene: TGFBR1 was set to GREEN
Added comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR1 pathogenic missense variants.
Sources: Expert list
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Marked gene: RNU4ATAC as ready
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Classified gene: RNU4ATAC as Green List (high evidence)
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.180 RNU4ATAC Bryony Thompson gene: RNU4ATAC was added
gene: RNU4ATAC was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 32048120; 26522830; 29265708
Phenotypes for gene: RNU4ATAC were set to Lowry-Wood syndrome MIM#226960; Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710; Roifman syndrome MIM#616651
Review for gene: RNU4ATAC was set to GREEN
gene: RNU4ATAC was marked as current diagnostic
Added comment: Conditions caused by this gene are classified as Immuno-osseus dysplasias by IUIS (under CID with syndromic features). >3 unrelated cases have been reported.
Sources: Expert list
Combined Immunodeficiency v0.179 UNC119 Bryony Thompson Marked gene: UNC119 as ready
Combined Immunodeficiency v0.179 UNC119 Bryony Thompson Gene: unc119 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.179 UNC119 Bryony Thompson gene: UNC119 was added
gene: UNC119 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UNC119 were set to 22184408
Phenotypes for gene: UNC119 were set to ?Immunodeficiency 13 MIM#615518
Review for gene: UNC119 was set to RED
Added comment: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes.
Sources: Expert list
Combined Immunodeficiency v0.178 ARPC1B Zornitza Stark Publications for gene: ARPC1B were set to 28368018
Combined Immunodeficiency v0.177 ARPC1B Zornitza Stark edited their review of gene: ARPC1B: Added comment: Third family reported PMID 33679784; Changed publications: 28368018, 33679784; Changed phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Combined Immunodeficiency v0.177 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Combined Immunodeficiency v0.176 ZAP70 Zornitza Stark edited their review of gene: ZAP70: Changed publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Marked gene: IRF4 as ready
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Classified gene: IRF4 as Amber List (moderate evidence)
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.175 IRF4 Bryony Thompson gene: IRF4 was added
gene: IRF4 was added to Combined Immunodeficiency. Sources: Other
Mode of inheritance for gene: IRF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF4 were set to 29408330
Phenotypes for gene: IRF4 were set to Combined immunodeficiency
Review for gene: IRF4 was set to AMBER
Added comment: A single case with a homozygous splice variant inherited by uniparental isodisomy, and previously reported supporting null animal models.
Sources: Other
Combined Immunodeficiency v0.174 FCHO1 Zornitza Stark Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Combined Immunodeficiency v0.173 FCHO1 Zornitza Stark edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Marked gene: TLR8 as ready
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.172 TLR8 Zornitza Stark gene: TLR8 was added
gene: TLR8 was added to Combined Immunodeficiency. Sources: Literature
somatic tags were added to gene: TLR8.
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449
Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
Added comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: Literature
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Combined Immunodeficiency v0.170 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Combined Immunodeficiency v0.169 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.168 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.168 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Combined Immunodeficiency v0.168 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.168 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840
Combined Immunodeficiency v0.167 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Combined Immunodeficiency v0.166 EPG5 Zornitza Stark Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.165 EPG5 Zornitza Stark reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.164 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Combined Immunodeficiency v0.163 MYSM1 Zornitza Stark Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Combined Immunodeficiency v0.162 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.162 MYSM1 Zornitza Stark edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305
Combined Immunodeficiency v0.162 IVNS1ABP Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969
Combined Immunodeficiency v0.161 IVNS1ABP Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.161 TERT Bryony Thompson reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Dyskeratosis congenita with Variable lymphocyte numbers; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Marked gene: IVNS1ABP as ready
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence)
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.160 IVNS1ABP Bryony Thompson gene: IVNS1ABP was added
gene: IVNS1ABP was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IVNS1ABP were set to 32499645
Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency
Review for gene: IVNS1ABP was set to GREEN
Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes.
Sources: Literature
Combined Immunodeficiency v0.159 IL6R Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944
Combined Immunodeficiency v0.158 IL6R Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10, MIM# 612783
Combined Immunodeficiency v0.157 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Combined Immunodeficiency v0.156 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782
Combined Immunodeficiency v0.154 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Combined Immunodeficiency v0.153 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.152 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Hoyeraal-Hreidarsson syndrome
Combined Immunodeficiency v0.151 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Combined Immunodeficiency v0.150 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.149 TPP1 Zornitza Stark Classified gene: TPP1 as Red List (low evidence)
Combined Immunodeficiency v0.149 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.148 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: None; Publications: 25233904; Phenotypes: Hoyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark edited their review of gene: TNFRSF4: Changed phenotypes: Immunodeficiency 16, MIM# 615593
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Combined Immunodeficiency v0.147 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Combined Immunodeficiency v0.146 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.145 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Combined Immunodeficiency v0.145 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.144 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency, MIM# 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Combined Immunodeficiency v0.143 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.142 TINF2 Zornitza Stark Classified gene: TINF2 as Amber List (moderate evidence)
Combined Immunodeficiency v0.142 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.141 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.141 TERT Zornitza Stark Marked gene: TERT as ready
Combined Immunodeficiency v0.141 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.141 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989; {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989
Combined Immunodeficiency v0.140 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.139 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Combined Immunodeficiency v0.139 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.138 TERT Zornitza Stark reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989, {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.138 TERC Zornitza Stark Marked gene: TERC as ready
Combined Immunodeficiency v0.138 TERC Zornitza Stark Gene: terc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.138 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Combined Immunodeficiency v0.137 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.136 TERC Zornitza Stark Classified gene: TERC as Amber List (moderate evidence)
Combined Immunodeficiency v0.136 TERC Zornitza Stark Gene: terc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.135 TERC Zornitza Stark reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Tag SV/CNV tag was added to gene: TAPBP.
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Marked gene: TAPBP as ready
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Combined Immunodeficiency v0.134 TAPBP Zornitza Stark Publications for gene: TAPBP were set to
Combined Immunodeficiency v0.133 TAPBP Zornitza Stark Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.132 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Combined Immunodeficiency v0.132 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.131 TAPBP Zornitza Stark reviewed gene: TAPBP: Rating: RED; Mode of pathogenicity: None; Publications: 12149238; Phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM# 214800
Combined Immunodeficiency v0.130 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Combined Immunodeficiency v0.129 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.128 SEMA3E Zornitza Stark Classified gene: SEMA3E as Red List (low evidence)
Combined Immunodeficiency v0.128 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.127 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: None; Publications: 15235037, 28634005; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Marked gene: RNF31 as ready
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation
Combined Immunodeficiency v0.126 RNF31 Zornitza Stark Publications for gene: RNF31 were set to
Combined Immunodeficiency v0.125 RNF31 Zornitza Stark Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.124 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Combined Immunodeficiency v0.124 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.123 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Marked gene: RHOH as ready
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Combined Immunodeficiency v0.122 RHOH Zornitza Stark Publications for gene: RHOH were set to
Combined Immunodeficiency v0.121 RHOH Zornitza Stark Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.120 RHOH Zornitza Stark Classified gene: RHOH as Red List (low evidence)
Combined Immunodeficiency v0.120 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.119 RHOH Zornitza Stark reviewed gene: RHOH: Rating: RED; Mode of pathogenicity: None; Publications: 22850876, 27574848; Phenotypes: {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.119 POLE Zornitza Stark Marked gene: POLE as ready
Combined Immunodeficiency v0.119 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.119 POLE Zornitza Stark Phenotypes for gene: POLE were changed from to FILS syndrome, MIM# 615139; IMAGE-I syndrome, MIM# 618336
Combined Immunodeficiency v0.118 POLE Zornitza Stark Publications for gene: POLE were set to
Combined Immunodeficiency v0.117 POLE Zornitza Stark Tag deep intronic tag was added to gene: POLE.
Combined Immunodeficiency v0.117 POLE Zornitza Stark Mode of inheritance for gene: POLE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.116 POLE Zornitza Stark reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30503519, 23230001, 25948378; Phenotypes: FILS syndrome, MIM# 615139, IMAGE-I syndrome, MIM# 618336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.116 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Combined Immunodeficiency v0.116 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.115 PMS2 Zornitza Stark changed review comment from: Sources: Expert list; to: Immunodeficiency is a rare manifestation of CMMRD. Sources: Expert list
Combined Immunodeficiency v0.115 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed rating: AMBER
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Combined Immunodeficiency v0.114 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Combined Immunodeficiency v0.114 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Marked gene: IL21 as ready
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767
Combined Immunodeficiency v0.112 IL21 Zornitza Stark Publications for gene: IL21 were set to
Combined Immunodeficiency v0.111 IL21 Zornitza Stark Mode of inheritance for gene: IL21 was changed from Unknown to Unknown
Combined Immunodeficiency v0.110 IL21 Zornitza Stark Classified gene: IL21 as Red List (low evidence)
Combined Immunodeficiency v0.110 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.109 IL21 Zornitza Stark reviewed gene: IL21: Rating: RED; Mode of pathogenicity: None; Publications: 24746753; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Marked gene: CD8A as ready
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Publications for gene: CD8A were set to
Combined Immunodeficiency v0.108 CD8A Zornitza Stark Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957
Combined Immunodeficiency v0.107 CD8A Zornitza Stark Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.106 CD8A Zornitza Stark Classified gene: CD8A as Amber List (moderate evidence)
Combined Immunodeficiency v0.106 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.105 CD8A Zornitza Stark edited their review of gene: CD8A: Changed rating: AMBER
Combined Immunodeficiency v0.105 CD8A Zornitza Stark reviewed gene: CD8A: Rating: ; Mode of pathogenicity: None; Publications: 11435463, 17658607, 26563160; Phenotypes: CD8 deficiency, familial, MIM# 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Marked gene: BCL10 as ready
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Gene: bcl10 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098
Combined Immunodeficiency v0.104 BCL10 Zornitza Stark Publications for gene: BCL10 were set to
Combined Immunodeficiency v0.103 BCL10 Zornitza Stark Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.102 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.102 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Combined Immunodeficiency v0.101 FOXN1 Zornitza Stark Mode of inheritance for gene: FOXN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.100 FOXN1 Zornitza Stark reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31447097, 18339010, 10206641; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.100 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Combined Immunodeficiency v0.99 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Combined Immunodeficiency v0.98 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.98 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.97 IL6ST Zornitza Stark changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.
Sources: Expert list
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Combined Immunodeficiency v0.96 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Combined Immunodeficiency v0.95 CTPS1 Zornitza Stark Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.94 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592 to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592
Combined Immunodeficiency v0.93 IKBKB Zornitza Stark Publications for gene: IKBKB were set to
Combined Immunodeficiency v0.92 IKBKB Zornitza Stark Mode of pathogenicity for gene: IKBKB was changed from to Other
Combined Immunodeficiency v0.91 IKBKB Zornitza Stark Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.90 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470, 25216719, 24369075; Phenotypes: Immunodeficiency 15A, autosomal dominant, MIM# 618204, Immunodeficiency 15B, autosomal recessive, MIM# 615592; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.90 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Combined Immunodeficiency v0.90 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.90 CARD11 Zornitza Stark Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Combined Immunodeficiency v0.89 CARD11 Zornitza Stark Publications for gene: CARD11 were set to
Combined Immunodeficiency v0.88 CARD11 Zornitza Stark Mode of inheritance for gene: CARD11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.87 CARD11 Zornitza Stark reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.87 STAT5B Zornitza Stark Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency, MIM# 245590
Combined Immunodeficiency v0.86 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Combined Immunodeficiency v0.86 STAT5B Zornitza Stark Gene: stat5b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.86 STAT5B Zornitza Stark Publications for gene: STAT5B were set to
Combined Immunodeficiency v0.85 STAT5B Zornitza Stark Mode of pathogenicity for gene: STAT5B was changed from to Other
Combined Immunodeficiency v0.84 STAT5B Zornitza Stark Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.83 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.83 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Green List (high evidence)
Combined Immunodeficiency v0.83 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.82 NFE2L2 Zornitza Stark gene: NFE2L2 was added
gene: NFE2L2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions
Review for gene: NFE2L2 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Expert list
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Classified gene: FAT4 as Green List (high evidence)
Combined Immunodeficiency v0.81 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.80 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006; Low/variable T and B cells; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
Review for gene: FAT4 was set to GREEN
Added comment: Sources: Expert list
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Combined Immunodeficiency v0.79 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.78 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992; 27959755
Phenotypes for gene: BCL11B were set to Immunodeficiency 49, MIM# 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Over ten individuals reported, variable features in addition to T-cell abnormalities.
Sources: Expert list
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Combined Immunodeficiency v0.77 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.76 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 22444670
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM# 614602; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair; Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities
Review for gene: SKIV2L was set to GREEN
Added comment: At least six unrelated individuals reported.
Sources: Expert list
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Classified gene: TTC37 as Green List (high evidence)
Combined Immunodeficiency v0.75 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.74 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 21120949; 20176027
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, MIM# 222470; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair:Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities
Review for gene: TTC37 was set to GREEN
Added comment: Over 20 families reported.
Sources: Expert list
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Marked gene: ERBIN as ready
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Classified gene: ERBIN as Amber List (moderate evidence)
Combined Immunodeficiency v0.73 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.72 ERBIN Zornitza Stark gene: ERBIN was added
gene: ERBIN was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBIN were set to 28126831
Phenotypes for gene: ERBIN were set to Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Review for gene: ERBIN was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Marked gene: ZNF341 as ready
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Classified gene: ZNF341 as Green List (high evidence)
Combined Immunodeficiency v0.71 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.70 ZNF341 Zornitza Stark gene: ZNF341 was added
gene: ZNF341 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth
Review for gene: ZNF341 was set to GREEN
Added comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported).
Sources: Expert list
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Classified gene: IL6ST as Green List (high evidence)
Combined Immunodeficiency v0.69 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.68 IL6ST Zornitza Stark gene: IL6ST was added
gene: IL6ST was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.
Review for gene: IL6ST was set to GREEN
Added comment: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Marked gene: IL6R as ready
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Classified gene: IL6R as Amber List (moderate evidence)
Combined Immunodeficiency v0.67 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.66 IL6R Zornitza Stark gene: IL6R was added
gene: IL6R was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6R were set to 31235509
Phenotypes for gene: IL6R were set to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE
Review for gene: IL6R was set to AMBER
Added comment: Two unrelated individuals reported, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Marked gene: MOGS as ready
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Classified gene: MOGS as Green List (high evidence)
Combined Immunodeficiency v0.65 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.64 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 10788335; 24716661; 29235540
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056; Severe hypogammaglobulinaemia; Bacterial and viral infections; Severe neurologic disease
Review for gene: MOGS was set to GREEN
Added comment: Three families reported.
Sources: Expert list
Combined Immunodeficiency v0.63 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Combined Immunodeficiency v0.63 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.62 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 30395541
Phenotypes for gene: LIG1 were set to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
Review for gene: LIG1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Expert list
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark Marked gene: POLE2 as ready
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark Gene: pole2 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark changed review comment from: Single family reported.
Sources: Expert list; to: Single family reported with homozygous splice site variant.
Sources: Expert list
Combined Immunodeficiency v0.61 POLE2 Zornitza Stark gene: POLE2 was added
gene: POLE2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE2 were set to 26365386
Phenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism
Review for gene: POLE2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Marked gene: FCHO1 as ready
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Classified gene: FCHO1 as Green List (high evidence)
Combined Immunodeficiency v0.59 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.58 FCHO1 Zornitza Stark gene: FCHO1 was added
gene: FCHO1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32098969; 30822429
Phenotypes for gene: FCHO1 were set to Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Review for gene: FCHO1 was set to GREEN
Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.
Sources: Expert list
Combined Immunodeficiency v0.57 REL Zornitza Stark Marked gene: REL as ready
Combined Immunodeficiency v0.57 REL Zornitza Stark Gene: rel has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.57 REL Zornitza Stark gene: REL was added
gene: REL was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REL were set to 31103457
Phenotypes for gene: REL were set to Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Review for gene: REL was set to RED
Added comment: Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Sources: Expert list
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Marked gene: TFRC as ready
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence)
Combined Immunodeficiency v0.56 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.55 TFRC Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence)
Combined Immunodeficiency v0.55 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.54 TFRC Zornitza Stark gene: TFRC was added
gene: TFRC was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFRC were set to 26642240
Phenotypes for gene: TFRC were set to Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia
Review for gene: TFRC was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Combined Immunodeficiency v0.53 RELA Zornitza Stark Marked gene: RELA as ready
Combined Immunodeficiency v0.53 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.53 RELA Zornitza Stark Classified gene: RELA as Amber List (moderate evidence)
Combined Immunodeficiency v0.53 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.52 RELA Zornitza Stark gene: RELA was added
gene: RELA was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELA were set to 28600438; 29305315
Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias
Review for gene: RELA was set to AMBER
Added comment: Two families reported, somewhat different phenotypes.
Sources: Expert list
Combined Immunodeficiency v0.51 RELB Zornitza Stark Marked gene: RELB as ready
Combined Immunodeficiency v0.51 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.51 RELB Zornitza Stark Classified gene: RELB as Amber List (moderate evidence)
Combined Immunodeficiency v0.51 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.50 RELB Zornitza Stark gene: RELB was added
gene: RELB was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELB were set to 7834753; 26385063
Phenotypes for gene: RELB were set to Immunodeficiency 53, MIM# 617585; T cells: normal number, poor diversity, poor function; recurrent infections
Review for gene: RELB was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Combined Immunodeficiency v0.49 POLD2 Zornitza Stark changed review comment from: Single affected individual reported, compound heterozygous missense variants, some functional data.
Sources: Expert list; to: Single affected individual from consanguineous family reported, homozygous missense variant, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.49 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Review for gene: POLD2 was set to RED
Added comment: Single affected individual reported, compound heterozygous missense variants, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark changed review comment from: Three individuals from two generations of a consanguineous family reported, some functional data.
Sources: Expert list; to: Three individuals from two generations of a consanguineous family reported, some functional data. Another unrelated individual reported in PMID 31449058, more functional data.
Sources: Expert list
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed publications: 31629014, 31449058
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Added comment: Comment when marking as ready: Note mono allelic variants in POLD1 are associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Gene: pold1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Classified gene: POLD1 as Amber List (moderate evidence)
Combined Immunodeficiency v0.48 POLD1 Zornitza Stark Gene: pold1 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.47 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD1 were set to 31629014
Phenotypes for gene: POLD1 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability
Review for gene: POLD1 was set to AMBER
Added comment: Three individuals from two generations of a consanguineous family reported, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.46 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Combined Immunodeficiency v0.46 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.46 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
Combined Immunodeficiency v0.45 ZAP70 Zornitza Stark Mode of pathogenicity for gene: ZAP70 was changed from to Other
Combined Immunodeficiency v0.44 ZAP70 Zornitza Stark Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.43 ZAP70 Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Immunodeficiency 48, MIM# 269840, Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Marked gene: ICOSLG as ready
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Classified gene: ICOSLG as Amber List (moderate evidence)
Combined Immunodeficiency v0.43 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.42 ICOSLG Zornitza Stark gene: ICOSLG was added
gene: ICOSLG was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ICOSLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICOSLG were set to 31532372; 30498080
Phenotypes for gene: ICOSLG were set to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Review for gene: ICOSLG was set to AMBER
Added comment: One, possibly two, reports (one not in English), some functional data.
Sources: Expert list
Combined Immunodeficiency v0.41 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Combined Immunodeficiency v0.41 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.41 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150
Combined Immunodeficiency v0.40 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150
Combined Immunodeficiency v0.39 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Combined Immunodeficiency v0.39 TTC7A Zornitza Stark Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.38 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.38 Zornitza Stark Panel name changed from Combined immunodeficiency to Combined Immunodeficiency
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Combined Immunodeficiency v0.37 Zornitza Stark Panel name changed from Combined immunodeficiency_MelbourneGenomics_VCGS to Combined immunodeficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Marked gene: TRAC as ready
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Classified gene: TRAC as Green List (high evidence)
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.35 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to GREEN
Added comment: Sources: Expert list
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Classified gene: PMS2 as Green List (high evidence)
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.33 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, MIM# 276300
Review for gene: PMS2 was set to GREEN
Added comment: Sources: Expert list
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Marked gene: NSMCE3 as ready
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence)
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.31 NSMCE3 Zornitza Stark gene: NSMCE3 was added
gene: NSMCE3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE3 were set to 27427983
Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Review for gene: NSMCE3 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.30 NBN Zornitza Stark Marked gene: NBN as ready
Combined Immunodeficiency v0.30 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.30 NBN Zornitza Stark Classified gene: NBN as Green List (high evidence)
Combined Immunodeficiency v0.30 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.29 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260
Review for gene: NBN was set to GREEN
Added comment: Immunodeficiency is a recognised feature.
Sources: Expert list
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.27 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.25 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Review for gene: HTRA2 was set to GREEN
Added comment: Neutropaenia is a feature of this metabolic condition.
Sources: Expert list
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Marked gene: HELLS as ready
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Classified gene: HELLS as Green List (high evidence)
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.23 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HELLS were set to 26216346
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911
Review for gene: HELLS was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Expert list
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Marked gene: GINS1 as ready
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Classified gene: GINS1 as Green List (high evidence)
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.21 GINS1 Zornitza Stark gene: GINS1 was added
gene: GINS1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS1 were set to 28414293
Phenotypes for gene: GINS1 were set to Immunodeficiency 55, MIM#617827
Review for gene: GINS1 was set to GREEN
Added comment: IUGR, natural killer (NK) cell deficiency, and chronic neutropenia;mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. At least 5 patients from four unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.19 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: 12 individuals from 7 families reported.
Sources: Expert list
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence)
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.17 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Classified gene: CDCA7 as Green List (high evidence)
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.15 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Five patients from four unrelated families; presents with recurrent infections in childhood, dysmorphic features and ID variable.
Sources: Expert list
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Marked gene: CD40 as ready
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Classified gene: CD40 as Green List (high evidence)
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.13 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD40 were set to 11675497; 12915844
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Review for gene: CD40 was set to GREEN
Added comment: Sources: Expert list
Combined Immunodeficiency v0.12 MSN Zornitza Stark Marked gene: MSN as ready
Combined Immunodeficiency v0.12 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.12 MSN Zornitza Stark Classified gene: MSN as Green List (high evidence)
Combined Immunodeficiency v0.12 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.11 MSN Zornitza Stark gene: MSN was added
gene: MSN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Review for gene: MSN was set to GREEN
Added comment: Seven males from five unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.10 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.10 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.8 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.8 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.7 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 28368018
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Review for gene: ARPC1B was set to GREEN
Added comment: Three patients from two families with functional data.
Sources: Expert list
Combined Immunodeficiency v0.5 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Combined Immunodeficiency v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.5 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.4 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Combined Immunodeficiency v0.4 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.4 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Combined Immunodeficiency v0.3 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Combined Immunodeficiency v0.3 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.1 Zornitza Stark Panel name changed from Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS to Combined immunodeficiency_MelbourneGenomics_VCGS
Combined Immunodeficiency v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ZBTB24 was set to Unknown
Combined Immunodeficiency v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ZAP70 was set to Unknown
Combined Immunodeficiency v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: WIPF1 was set to Unknown
Combined Immunodeficiency v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: WAS was set to Unknown
Combined Immunodeficiency v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TTC7A was set to Unknown
Combined Immunodeficiency v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TPP1 was set to Unknown
Combined Immunodeficiency v0.0 TNFRSF4 Zornitza Stark gene: TNFRSF4 was added
gene: TNFRSF4 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TNFRSF4 was set to Unknown
Combined Immunodeficiency v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TINF2 was set to Unknown
Combined Immunodeficiency v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TERT was set to Unknown
Combined Immunodeficiency v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TERC was set to Unknown
Combined Immunodeficiency v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TCN2 was set to Unknown
Combined Immunodeficiency v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TBX1 was set to Unknown
Combined Immunodeficiency v0.0 TAPBP Zornitza Stark gene: TAPBP was added
gene: TAPBP was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TAPBP was set to Unknown
Combined Immunodeficiency v0.0 TAP2 Zornitza Stark gene: TAP2 was added
gene: TAP2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TAP2 was set to Unknown
Combined Immunodeficiency v0.0 TAP1 Zornitza Stark gene: TAP1 was added
gene: TAP1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TAP1 was set to Unknown
Combined Immunodeficiency v0.0 STK4 Zornitza Stark gene: STK4 was added
gene: STK4 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STK4 was set to Unknown
Combined Immunodeficiency v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STIM1 was set to Unknown
Combined Immunodeficiency v0.0 STAT5B Zornitza Stark gene: STAT5B was added
gene: STAT5B was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: STAT5B was set to Unknown
Combined Immunodeficiency v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_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
Combined Immunodeficiency v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SPINK5 was set to Unknown
Combined Immunodeficiency v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SP110 was set to Unknown
Combined Immunodeficiency v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Combined Immunodeficiency v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SLC46A1 was set to Unknown
Combined Immunodeficiency v0.0 SEMA3E Zornitza Stark gene: SEMA3E was added
gene: SEMA3E was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SEMA3E was set to Unknown
Combined Immunodeficiency v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RTEL1 was set to Unknown
Combined Immunodeficiency v0.0 RNF31 Zornitza Stark gene: RNF31 was added
gene: RNF31 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RNF31 was set to Unknown
Combined Immunodeficiency v0.0 RNF168 Zornitza Stark gene: RNF168 was added
gene: RNF168 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RNF168 was set to Unknown
Combined Immunodeficiency v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RMRP was set to Unknown
Combined Immunodeficiency v0.0 RHOH Zornitza Stark gene: RHOH was added
gene: RHOH was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RHOH was set to Unknown
Combined Immunodeficiency v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RFXAP was set to Unknown
Combined Immunodeficiency v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RFXANK was set to Unknown
Combined Immunodeficiency v0.0 RFX5 Zornitza Stark gene: RFX5 was added
gene: RFX5 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RFX5 was set to Unknown
Combined Immunodeficiency v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RBCK1 was set to Unknown
Combined Immunodeficiency v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RAG2 was set to Unknown
Combined Immunodeficiency v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RAG1 was set to Unknown
Combined Immunodeficiency v0.0 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RAC2 was set to Unknown
Combined Immunodeficiency v0.0 POLE Zornitza Stark gene: POLE was added
gene: POLE was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: POLE was set to Unknown
Combined Immunodeficiency v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PNP was set to Unknown
Combined Immunodeficiency v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PGM3 was set to Unknown
Combined Immunodeficiency v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PARN was set to Unknown
Combined Immunodeficiency v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ORAI1 was set to Unknown
Combined Immunodeficiency v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NOP10 was set to Unknown
Combined Immunodeficiency v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NHP2 was set to Unknown
Combined Immunodeficiency v0.0 NFKBID Zornitza Stark gene: NFKBID was added
gene: NFKBID was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKBID was set to Unknown
Combined Immunodeficiency v0.0 NFKBIA Zornitza Stark gene: NFKBIA was added
gene: NFKBIA was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKBIA was set to Unknown
Combined Immunodeficiency v0.0 NFKB2 Zornitza Stark gene: NFKB2 was added
gene: NFKB2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKB2 was set to Unknown
Combined Immunodeficiency v0.0 NFKB1 Zornitza Stark gene: NFKB1 was added
gene: NFKB1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKB1 was set to Unknown
Combined Immunodeficiency v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MTHFD1 was set to Unknown
Combined Immunodeficiency v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MCM4 was set to Unknown
Combined Immunodeficiency v0.0 MAP3K14 Zornitza Stark gene: MAP3K14 was added
gene: MAP3K14 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MAP3K14 was set to Unknown
Combined Immunodeficiency v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MALT1 was set to Unknown
Combined Immunodeficiency v0.0 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MAGT1 was set to Unknown
Combined Immunodeficiency v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: LRBA was set to Unknown
Combined Immunodeficiency v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: LIG4 was set to Unknown
Combined Immunodeficiency v0.0 LCK Zornitza Stark gene: LCK was added
gene: LCK was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: LCK was set to Unknown
Combined Immunodeficiency v0.0 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ITK was set to Unknown
Combined Immunodeficiency v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL7R was set to Unknown
Combined Immunodeficiency v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL2RG was set to Unknown
Combined Immunodeficiency v0.0 IL21R Zornitza Stark gene: IL21R was added
gene: IL21R was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL21R was set to Unknown
Combined Immunodeficiency v0.0 IL21 Zornitza Stark gene: IL21 was added
gene: IL21 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL21 was set to Unknown
Combined Immunodeficiency v0.0 IKZF1 Zornitza Stark gene: IKZF1 was added
gene: IKZF1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IKZF1 was set to Unknown
Combined Immunodeficiency v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IKBKG was set to Unknown
Combined Immunodeficiency v0.0 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IKBKB was set to Unknown
Combined Immunodeficiency v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ICOS was set to Unknown
Combined Immunodeficiency v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FOXN1 was set to Unknown
Combined Immunodeficiency v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: EPG5 was set to Unknown
Combined Immunodeficiency v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DOCK8 was set to Unknown
Combined Immunodeficiency v0.0 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DOCK2 was set to Unknown
Combined Immunodeficiency v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DNMT3B was set to Unknown
Combined Immunodeficiency v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DKC1 was set to Unknown
Combined Immunodeficiency v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DCLRE1C was set to Unknown
Combined Immunodeficiency v0.0 DCLRE1B Zornitza Stark gene: DCLRE1B was added
gene: DCLRE1B was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: DCLRE1B was set to Unknown
Combined Immunodeficiency v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CTPS1 was set to Unknown
Combined Immunodeficiency v0.0 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CIITA was set to Unknown
Combined Immunodeficiency v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CHD7 was set to Unknown
Combined Immunodeficiency v0.0 CD8A Zornitza Stark gene: CD8A was added
gene: CD8A was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD8A was set to Unknown
Combined Immunodeficiency v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD40LG was set to Unknown
Combined Immunodeficiency v0.0 CD3G Zornitza Stark gene: CD3G was added
gene: CD3G was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD3G was set to Unknown
Combined Immunodeficiency v0.0 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD27 was set to Unknown
Combined Immunodeficiency v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CCBE1 was set to Unknown
Combined Immunodeficiency v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CARD11 was set to Unknown
Combined Immunodeficiency v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: BLM was set to Unknown
Combined Immunodeficiency v0.0 BCL10 Zornitza Stark gene: BCL10 was added
gene: BCL10 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: BCL10 was set to Unknown
Combined Immunodeficiency v0.0 B2M Zornitza Stark gene: B2M was added
gene: B2M was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: B2M was set to Unknown
Combined Immunodeficiency v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ATM was set to Unknown
Combined Immunodeficiency v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: AK2 was set to Unknown
Combined Immunodeficiency v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ADA was set to Unknown
Combined Immunodeficiency v0.0 Zornitza Stark Added panel Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS