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| Predominantly Antibody Deficiency v0.133 | SENP7 |
Zornitza Stark gene: SENP7 was added gene: SENP7 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SENP7 were set to 38972567 Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Review for gene: SENP7 was set to GREEN Added comment: 4 individuals from three unrelated families reported with biallelic variants and neurodevelopmental abnormalities, dysmorphism, and immunodeficiency, including hypogammaglobulinaemia. Sources: Literature |
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| Predominantly Antibody Deficiency v0.127 | CD81 | Zornitza Stark edited their review of gene: CD81: Added comment: PMID:35849269 - Second patient reported with compound heterozygous variants (c.67–1 G > T and p.D137Mfs*10). The major manifestation of this patient was IgA nephropathy with aberrant serum galactose-deficient IgA1 and not recurrent infections.; Changed rating: GREEN; Changed publications: 20237408, 35849269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.125 | FNIP1 |
Peter McNaughton gene: FNIP1 was added gene: FNIP1 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FNIP1 were set to PMID: 37522988; PMID: 32181500; PMID: 32905580 (2020) Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia; Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Review for gene: FNIP1 was set to GREEN Added comment: PMID: 37522988 (2023)- Additional patient with - Peripheral B cell deficiency, severe hypogammaglobulinemia/agammaglobulinemia, intermittent neutropenia responsive to G-CSF treatment, in conjunction with hypertrophic cardiomyopathy of the ventricle associated with Wolff-Parkinson-White Syndrome, and psycho-motor as well as intellectual developmental delay. 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 |
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| Predominantly Antibody Deficiency v0.122 | DNMT3B | Zornitza Stark Tag treatable tag was added to gene: DNMT3B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.120 | CD79B | Zornitza Stark Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | CD79B | Zornitza Stark Tag treatable tag was added to gene: CD79B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | CD79A | Zornitza Stark Tag treatable tag was added to gene: CD79A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | BTK | Zornitza Stark Tag treatable tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | BLNK | Zornitza Stark Tag treatable tag was added to gene: BLNK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.118 | PAX5 | Zornitza Stark Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.116 | PAX5 |
Peter McNaughton gene: PAX5 was added gene: PAX5 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: PAX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PAX5 were set to PMID: 35947077 Phenotypes for gene: PAX5 were set to Hypogammaglobulinaemia Review for gene: PAX5 was set to AMBER Added comment: 2.5yo male with recurrent infections and hypogammaglobulinaemia, later also ASD, sensorimotor and cognitive defects. Functional studies showing reduced B cells. Mouse model replicating partial B cell developmental arrest. Sources: Literature |
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| Predominantly Antibody Deficiency v0.110 | TNFSF13 |
Peter McNaughton gene: TNFSF13 was added gene: TNFSF13 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF13 were set to PMID: 32298700 Phenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia Review for gene: TNFSF13 was set to RED Added comment: Single patient born to consanguineous parents Sources: Literature |
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| Predominantly Antibody Deficiency v0.110 | POU2AF1 |
Peter McNaughton gene: POU2AF1 was added gene: POU2AF1 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU2AF1 were set to PMID: 33571536 Phenotypes for gene: POU2AF1 were set to Agammaglobulinaemia Review for gene: POU2AF1 was set to RED Added comment: Single patient from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers. Sources: Literature |
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| Predominantly Antibody Deficiency v0.110 | PIK3CG |
Peter McNaughton gene: PIK3CG was added gene: PIK3CG was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3CG were set to PMID: 31554793; PMID: 33054089 Phenotypes for gene: PIK3CG were set to Humoral deficiency; Immune dysregulation; HLH Review for gene: PIK3CG was set to AMBER Added comment: Included in IUIS 2022 update predominantly antibody deficiency. PMID: 31554793 female patient presented with haemolytic anaemia, pulmonary impairment and hypogammaglobulinaemia. Sources: Literature |
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| Predominantly Antibody Deficiency v0.106 | CD79A | Zornitza Stark Mode of inheritance for gene: CD79A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.103 | IGLL1 | Zornitza Stark Mode of inheritance for gene: IGLL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.100 | INO80 | Zornitza Stark Mode of inheritance for gene: INO80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.96 | XIAP | Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.92 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.90 | WIPF1 | Zornitza Stark Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.89 | WIPF1 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.87 | BTK | Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.84 | BLNK | Zornitza Stark Mode of inheritance for gene: BLNK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.81 | AICDA | Zornitza Stark Mode of inheritance for gene: AICDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.78 | TCF3 | Zornitza Stark Mode of inheritance for gene: TCF3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.75 | CD19 | Zornitza Stark Mode of inheritance for gene: CD19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.72 | NFKB2 | Zornitza Stark Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.69 | NFKB1 | Zornitza Stark Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.67 | SPI1 |
Zornitza Stark gene: SPI1 was added gene: SPI1 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPI1 were set to 33951726 Phenotypes for gene: SPI1 were set to Agammaglobulinaemia Review for gene: SPI1 was set to GREEN Added comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data. Sources: Literature |
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| Predominantly Antibody Deficiency v0.64 | NBAS |
Bryony Thompson gene: NBAS was added gene: NBAS was added to Predominantly Antibody Deficiency. Sources: Other Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 26286438; 33042920 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800 Review for gene: NBAS was set to GREEN Added comment: Immunological abnormalities leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients Sources: Other |
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| Predominantly Antibody Deficiency v0.62 | MSH6 |
Bryony Thompson gene: MSH6 was added gene: MSH6 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH6 were set to 22250089; 32048120; 30013564 Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency Review for gene: MSH6 was set to RED Added comment: 5 CMMRD cases with homozygous/compound heterozygous did not show any clinical warning signs of PID (infections, immune dysregulation, inflammation, failure to thrive, etc.) or uniform/specific patterns of laboratory abnormalities. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.59 | MOGS | Zornitza Stark Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.58 | PIK3CD | Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.55 | TNFSF12 | Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.51 | TNFRSF13C | Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.47 | TNFRSF13B | Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.46 | RAC2 | Zornitza Stark Mode of inheritance for gene: RAC2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.41 | MS4A1 | Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.37 | CR2 | Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.33 | CD81 | Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.30 | RAC2 |
Zornitza Stark gene: RAC2 was added gene: RAC2 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050 Phenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness; selective IgA deficiency; Reduced Ab responses following vaccination Review for gene: RAC2 was set to GREEN Added comment: GoF variants reported in at least 5 unrelated individuals, functional data including animal model. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.28 | SEC61A1 |
Zornitza Stark gene: SEC61A1 was added gene: SEC61A1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 27392076; 28782633 Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections Review for gene: SEC61A1 was set to GREEN Added comment: Gene initially linked with renal phenotype in two families, inconsistent immunological findings (PMID 27392076). Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.27 | SH3KBP1 | Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.27 | SH3KBP1 |
Zornitza Stark gene: SH3KBP1 was added gene: SH3KBP1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 29636373; 21708930 Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310 Review for gene: SH3KBP1 was set to RED Added comment: Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.24 | ATP6AP1 |
Zornitza Stark gene: ATP6AP1 was added gene: ATP6AP1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM# 300972 Review for gene: ATP6AP1 was set to GREEN Added comment: 11 males from 6 unrelated families reported, four different variants. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.23 | IRF2BP2 |
Zornitza Stark gene: IRF2BP2 was added gene: IRF2BP2 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BP2 were set to 27016798 Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765 Review for gene: IRF2BP2 was set to RED Added comment: Single family reported only. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.21 | IKZF1 |
Zornitza Stark gene: IKZF1 was added gene: IKZF1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 21548011; 26981933 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity Review for gene: IKZF1 was set to GREEN Added comment: At least five unrelated families reported. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.17 | PIK3CD | Zornitza Stark Mode of pathogenicity for gene: PIK3CD was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.16 | PIK3CD | Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.14 | TOP2B |
Zornitza Stark gene: TOP2B was added gene: TOP2B was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOP2B were set to 31409799 Phenotypes for gene: TOP2B were set to Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies Review for gene: TOP2B was set to GREEN Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.12 | SLC39A7 |
Zornitza Stark gene: SLC39A7 was added gene: SLC39A7 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 30718914 Phenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia Review for gene: SLC39A7 was set to GREEN Added comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.8 | OAS1 |
Zornitza Stark gene: OAS1 was added gene: OAS1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OAS1 were set to 29455859 Phenotypes for gene: OAS1 were set to infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia Review for gene: OAS1 was set to GREEN Added comment: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent. Sources: Literature |
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| Predominantly Antibody Deficiency v0.6 | SKIV2L |
Zornitza Stark gene: SKIV2L was added gene: SKIV2L was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. 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 Review for gene: SKIV2L was set to GREEN Added comment: Immunodeficiency is part of the phenotype. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.4 | IGHM |
Zornitza Stark gene: IGHM was added gene: IGHM was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHM were set to 12370281; 8890099 Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM# 601495 Review for gene: IGHM was set to GREEN Added comment: Multiple families reported; please note a 40kb deletion as well as SNVs. Sources: Expert list |
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| Predominantly Antibody Deficiency v0.3 | ARHGEF1 |
Zornitza Stark gene: ARHGEF1 was added gene: ARHGEF1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGEF1 were set to 30521495 Phenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459 Review for gene: ARHGEF1 was set to RED Added comment: Single family, functional data. Sources: Literature |
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| Predominantly Antibody Deficiency v0.0 | XIAP |
Zornitza Stark gene: XIAP was added gene: XIAP was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: XIAP was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | WIPF1 |
Zornitza Stark gene: WIPF1 was added gene: WIPF1 was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | WAS |
Zornitza Stark gene: WAS was added gene: WAS was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | UNG |
Zornitza Stark gene: UNG was added gene: UNG was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: UNG was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TTC37 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TRNT1 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | TNFSF12 |
Zornitza Stark gene: TNFSF12 was added gene: TNFSF12 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TNFSF12 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | TNFRSF13C |
Zornitza Stark gene: TNFRSF13C was added gene: TNFRSF13C was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TNFRSF13C was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | TNFRSF13B |
Zornitza Stark gene: TNFRSF13B was added gene: TNFRSF13B was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TNFRSF13B was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | TCF3 |
Zornitza Stark gene: TCF3 was added gene: TCF3 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TCF3 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | SP110 |
Zornitza Stark gene: SP110 was added gene: SP110 was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | SH2D1A |
Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SH2D1A was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PIK3R1 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | PIK3CD |
Zornitza Stark gene: PIK3CD was added gene: PIK3CD was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PIK3CD was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | NFKBID |
Zornitza Stark gene: NFKBID was added gene: NFKBID was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | NFKB2 |
Zornitza Stark gene: NFKB2 was added gene: NFKB2 was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | NFKB1 |
Zornitza Stark gene: NFKB1 was added gene: NFKB1 was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | MS4A1 |
Zornitza Stark gene: MS4A1 was added gene: MS4A1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MS4A1 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | MOGS |
Zornitza Stark gene: MOGS was added gene: MOGS was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MOGS was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | INO80 |
Zornitza Stark gene: INO80 was added gene: INO80 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: INO80 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | IGLL1 |
Zornitza Stark gene: IGLL1 was added gene: IGLL1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IGLL1 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | DNMT3B |
Zornitza Stark gene: DNMT3B was added gene: DNMT3B was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | CXCR4 |
Zornitza Stark gene: CXCR4 was added gene: CXCR4 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CXCR4 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | CR2 |
Zornitza Stark gene: CR2 was added gene: CR2 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CR2 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | CD81 |
Zornitza Stark gene: CD81 was added gene: CD81 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD81 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | CD79B |
Zornitza Stark gene: CD79B was added gene: CD79B was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD79B was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | CD79A |
Zornitza Stark gene: CD79A was added gene: CD79A was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD79A was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | CD19 |
Zornitza Stark gene: CD19 was added gene: CD19 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD19 was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | CARD11 |
Zornitza Stark gene: CARD11 was added gene: CARD11 was added to Predominantly antibody deficiency_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 |
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| Predominantly Antibody Deficiency v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: BTK was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | BLNK |
Zornitza Stark gene: BLNK was added gene: BLNK was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: BLNK was set to Unknown |
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| Predominantly Antibody Deficiency v0.0 | AICDA |
Zornitza Stark gene: AICDA was added gene: AICDA was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: AICDA was set to Unknown |
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