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Predominantly Antibody Deficiency v1.0 Bryony Thompson promoted panel to version 1.0
Predominantly Antibody Deficiency v0.150 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Predominantly Antibody Deficiency v0.149 SH3KBP1 Bryony Thompson edited their review of gene: SH3KBP1: Changed phenotypes: immunodeficiency 61 MONDO:0010296
Predominantly Antibody Deficiency v0.149 SH3KBP1 Bryony Thompson Classified gene: SH3KBP1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.149 SH3KBP1 Bryony Thompson Gene: sh3kbp1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.148 SH3KBP1 Bryony Thompson reviewed gene: SH3KBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29636373, 21708930; Phenotypes: Immunodeficiency, common variable, 4 MONDO:0013284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.148 PTEN Bryony Thompson Classified gene: PTEN as Green List (high evidence)
Predominantly Antibody Deficiency v0.148 PTEN Bryony Thompson Gene: pten has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.148 PTEN Bryony Thompson Classified gene: PTEN as Green List (high evidence)
Predominantly Antibody Deficiency v0.148 PTEN Bryony Thompson Gene: pten has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.147 PTEN Bryony Thompson Marked gene: PTEN as ready
Predominantly Antibody Deficiency v0.147 PTEN Bryony Thompson Gene: pten has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.147 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 30504085; 33532886; 26246517
Phenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623
Review for gene: PTEN was set to GREEN
gene: PTEN was marked as current diagnostic
Added comment: Hypogammaglobulinaemia can be a feature of the condition.
Sources: Expert list
Predominantly Antibody Deficiency v0.146 POU2AF1 Bryony Thompson changed review comment from: A single case has been reported and a supporting null mouse model.; to: A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:005865
Predominantly Antibody Deficiency v0.146 POU2AF1 Bryony Thompson Classified gene: POU2AF1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.146 POU2AF1 Bryony Thompson Gene: pou2af1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.145 POU2AF1 Bryony Thompson reviewed gene: POU2AF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35603192, 33571536; Phenotypes: Agammaglobulinemia MONDO:0015977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Marked gene: KARS as ready
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Gene: kars has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Classified gene: KARS as Green List (high evidence)
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Gene: kars has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.144 KARS Bryony Thompson gene: KARS was added
gene: KARS was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 37770806
Phenotypes for gene: KARS were set to leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
Review for gene: KARS was set to GREEN
gene: KARS was marked as current diagnostic
Added comment: Recurrent/severe infections (9/17) and B cell abnormalities (either B cell lymphopenia [3/9], hypogammaglobulinemia [either IgG, IgA or IgM; 6/15] or impaired vaccine responses [4/7]) have been reported in cases with KARS1-related disease.
Sources: Expert list
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Marked gene: IGKC as ready
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Gene: igkc has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Classified gene: IGKC as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Gene: igkc has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.142 IGKC Bryony Thompson gene: IGKC was added
gene: IGKC was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121
Phenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Review for gene: IGKC was set to AMBER
Added comment: Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021)
- at least 6 probands
https://search.clinicalgenome.org/CCID:005121
Sources: Expert list
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Marked gene: CTNNBL1 as ready
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Classified gene: CTNNBL1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.140 CTNNBL1 Bryony Thompson gene: CTNNBL1 was added
gene: CTNNBL1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 23343763; 32484799
Phenotypes for gene: CTNNBL1 were set to common variable immunodeficiency MONDO:0015517
Review for gene: CTNNBL1 was set to AMBER
Added comment: A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:004601
Sources: Expert list
Predominantly Antibody Deficiency v0.139 MS4A1 Bryony Thompson Classified gene: MS4A1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.139 MS4A1 Bryony Thompson Gene: ms4a1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.138 ARHGEF1 Bryony Thompson Publications for gene: ARHGEF1 were set to 30521495
Predominantly Antibody Deficiency v0.137 ARHGEF1 Bryony Thompson Classified gene: ARHGEF1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.137 ARHGEF1 Bryony Thompson Gene: arhgef1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.135 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Marked gene: SENP7 as ready
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Classified gene: SENP7 as Green List (high evidence)
Predominantly Antibody Deficiency v0.134 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.132 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670
Predominantly Antibody Deficiency v0.131 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Immunodeficiency, common variable, 15, MIM# 620670
Predominantly Antibody Deficiency v0.131 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408; 35849269
Predominantly Antibody Deficiency v0.130 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408; 35849269
Predominantly Antibody Deficiency v0.129 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408
Predominantly Antibody Deficiency v0.128 CD81 Zornitza Stark Classified gene: CD81 as Green List (high evidence)
Predominantly Antibody Deficiency v0.128 CD81 Zornitza Stark Gene: cd81 has been classified as Green List (High Evidence).
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 v0.127 CR2 Zornitza Stark Publications for gene: CR2 were set to 22035880; 26325596
Predominantly Antibody Deficiency v0.126 CR2 Zornitza Stark Classified gene: CR2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.126 CR2 Zornitza Stark Gene: cr2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.125 CR2 Zornitza Stark edited their review of gene: CR2: Added comment: PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinemia.; Changed rating: GREEN; Changed publications: 22035880, 26325596, 28499783
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
Predominantly Antibody Deficiency v0.125 TCF3 Peter McNaughton reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37277074; Phenotypes: Hypogammaglobulinaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.125 Zornitza Stark HPO terms changed from to Decreased immunoglobulin level, HP:0041078
List of related panels changed from to Decreased immunoglobulin level; HP:0041078
Predominantly Antibody Deficiency v0.124 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798
Predominantly Antibody Deficiency v0.123 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.123 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.122 IRF2BP2 Zornitza Stark edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765
Predominantly Antibody Deficiency v0.122 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Marked gene: CD79B as ready
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Phenotypes for gene: CD79B were changed from to Agammaglobulinaemia 6, MIM# 612692
Predominantly Antibody Deficiency v0.121 CD79B Zornitza Stark Publications for gene: CD79B were set to
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 edited their review of gene: CD79B: Changed publications: 17709424, 17675462, 33733381, 24722855
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 6, MIM# 612692; Mode of inheritance: 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 v0.119 PAX5 Zornitza Stark Marked gene: PAX5 as ready
Predominantly Antibody Deficiency v0.119 PAX5 Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.119 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
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 v0.117 PAX5 Zornitza Stark Classified gene: PAX5 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.117 PAX5 Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence).
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
Predominantly Antibody Deficiency v0.116 TNFSF13 Zornitza Stark Marked gene: TNFSF13 as ready
Predominantly Antibody Deficiency v0.116 TNFSF13 Zornitza Stark Gene: tnfsf13 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.116 TNFSF13 Zornitza Stark Phenotypes for gene: TNFSF13 were changed from Hypogammaglobulinaemia to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
Predominantly Antibody Deficiency v0.115 TNFSF13 Zornitza Stark Classified gene: TNFSF13 as Red List (low evidence)
Predominantly Antibody Deficiency v0.115 TNFSF13 Zornitza Stark Gene: tnfsf13 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.114 POU2AF1 Zornitza Stark Marked gene: POU2AF1 as ready
Predominantly Antibody Deficiency v0.114 POU2AF1 Zornitza Stark Gene: pou2af1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.114 POU2AF1 Zornitza Stark Phenotypes for gene: POU2AF1 were changed from Agammaglobulinaemia to Agammaglobulinaemia, MONDO:0015977, POU2AF1-related
Predominantly Antibody Deficiency v0.113 POU2AF1 Zornitza Stark Classified gene: POU2AF1 as Red List (low evidence)
Predominantly Antibody Deficiency v0.113 POU2AF1 Zornitza Stark Gene: pou2af1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.112 PIK3CG Zornitza Stark Marked gene: PIK3CG as ready
Predominantly Antibody Deficiency v0.112 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.112 PIK3CG Zornitza Stark Phenotypes for gene: PIK3CG were changed from Humoral deficiency; Immune dysregulation; HLH to Immunodeficiency 97 with autoinflammation, MIM# 619802; Humoral deficiency; Immune dysregulation; HLH
Predominantly Antibody Deficiency v0.111 PIK3CG Zornitza Stark Classified gene: PIK3CG as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.111 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.110 PIK3CG Zornitza Stark reviewed gene: PIK3CG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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
Predominantly Antibody Deficiency v0.110 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Predominantly Antibody Deficiency v0.109 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Predominantly Antibody Deficiency v0.109 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Predominantly Antibody Deficiency v0.108 TCF3 Zornitza Stark edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Predominantly Antibody Deficiency v0.108 CD79A Zornitza Stark Marked gene: CD79A as ready
Predominantly Antibody Deficiency v0.108 CD79A Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.108 CD79A Zornitza Stark Phenotypes for gene: CD79A were changed from to Agammaglobulinaemia 3, MIM#613501
Predominantly Antibody Deficiency v0.107 CD79A Zornitza Stark Publications for gene: CD79A were set to
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 v0.105 CD79A Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29335801, 31696364, 24481606, 10525050, 11920841; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.105 IGLL1 Zornitza Stark Marked gene: IGLL1 as ready
Predominantly Antibody Deficiency v0.105 IGLL1 Zornitza Stark Gene: igll1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.105 IGLL1 Zornitza Stark Phenotypes for gene: IGLL1 were changed from to Agammaglobulinaemia 2, MIM# 613500
Predominantly Antibody Deficiency v0.104 IGLL1 Zornitza Stark Publications for gene: IGLL1 were set to
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 v0.102 IGLL1 Zornitza Stark reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9419212, 25502423, 27576013; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.102 INO80 Zornitza Stark Marked gene: INO80 as ready
Predominantly Antibody Deficiency v0.102 INO80 Zornitza Stark Gene: ino80 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.102 INO80 Zornitza Stark Phenotypes for gene: INO80 were changed from to Primary immunodeficiency, MONDO:0003778
Predominantly Antibody Deficiency v0.101 INO80 Zornitza Stark Publications for gene: INO80 were set to
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 v0.99 INO80 Zornitza Stark Classified gene: INO80 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.99 INO80 Zornitza Stark Gene: ino80 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.98 INO80 Zornitza Stark reviewed gene: INO80: Rating: AMBER; Mode of pathogenicity: None; Publications: 25312759; Phenotypes: Primary immunodeficiency, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.98 XIAP Zornitza Stark Marked gene: XIAP as ready
Predominantly Antibody Deficiency v0.98 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.98 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Predominantly Antibody Deficiency v0.97 XIAP Zornitza Stark Publications for gene: XIAP were set to
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 v0.95 XIAP Zornitza Stark reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2, MIM# 300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.95 SPI1 Zornitza Stark Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Predominantly Antibody Deficiency v0.94 SPI1 Zornitza Stark edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Predominantly Antibody Deficiency v0.94 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Predominantly Antibody Deficiency v0.93 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia
Predominantly Antibody Deficiency v0.93 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Predominantly Antibody Deficiency v0.92 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies
Predominantly Antibody Deficiency v0.92 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies
Predominantly Antibody Deficiency v0.92 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Predominantly Antibody Deficiency v0.92 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
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 v0.91 WIPF1 Zornitza Stark Publications for gene: WIPF1 were set to
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 v0.89 BTK Zornitza Stark Marked gene: BTK as ready
Predominantly Antibody Deficiency v0.89 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.89 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to Agammaglobulinaemia, X-linked 1, MIM# 300755; Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Predominantly Antibody Deficiency v0.88 BTK Zornitza Stark Publications for gene: BTK were set to
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 v0.86 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.86 BLNK Zornitza Stark Marked gene: BLNK as ready
Predominantly Antibody Deficiency v0.86 BLNK Zornitza Stark Gene: blnk has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.86 BLNK Zornitza Stark Phenotypes for gene: BLNK were changed from to Agammaglobulinaemia 4, MIM# 613502
Predominantly Antibody Deficiency v0.85 BLNK Zornitza Stark Publications for gene: BLNK were set to
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 v0.83 BLNK Zornitza Stark edited their review of gene: BLNK: Changed phenotypes: Agammaglobulinaemia 4, MIM# 613502
Predominantly Antibody Deficiency v0.83 BLNK Zornitza Stark edited their review of gene: BLNK: Changed rating: GREEN
Predominantly Antibody Deficiency v0.83 BLNK Zornitza Stark reviewed gene: BLNK: Rating: ; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinemia 4, MIM# 613502; Mode of inheritance: None
Predominantly Antibody Deficiency v0.83 AICDA Zornitza Stark Marked gene: AICDA as ready
Predominantly Antibody Deficiency v0.83 AICDA Zornitza Stark Gene: aicda has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.83 AICDA Zornitza Stark Phenotypes for gene: AICDA were changed from to Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Predominantly Antibody Deficiency v0.82 AICDA Zornitza Stark Publications for gene: AICDA were set to
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 v0.80 AICDA Zornitza Stark reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11007475; Phenotypes: Immunodeficiency with hyper-IgM, type 2, MIM# 605258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.80 TCF3 Zornitza Stark Marked gene: TCF3 as ready
Predominantly Antibody Deficiency v0.80 TCF3 Zornitza Stark Gene: tcf3 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.80 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
Predominantly Antibody Deficiency v0.79 TCF3 Zornitza Stark Publications for gene: TCF3 were set to
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 v0.77 TCF3 Zornitza Stark reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24216514, 28532655, 30063982, 8001124, 8001125; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.77 CD19 Zornitza Stark Marked gene: CD19 as ready
Predominantly Antibody Deficiency v0.77 CD19 Zornitza Stark Gene: cd19 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.77 CD19 Zornitza Stark Phenotypes for gene: CD19 were changed from to Immunodeficiency, common variable, 3, MIM# 613493
Predominantly Antibody Deficiency v0.76 CD19 Zornitza Stark Publications for gene: CD19 were set to
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 v0.74 CD19 Zornitza Stark reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16672701, 17882224, 17882224, 21330302, 21159371; Phenotypes: Immunodeficiency, common variable, 3, MIM# 613493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.74 NFKB2 Zornitza Stark Marked gene: NFKB2 as ready
Predominantly Antibody Deficiency v0.74 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.74 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
Predominantly Antibody Deficiency v0.73 NFKB2 Zornitza Stark Publications for gene: NFKB2 were set to
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 v0.71 NFKB2 Zornitza Stark 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
Predominantly Antibody Deficiency v0.71 NFKB1 Zornitza Stark Marked gene: NFKB1 as ready
Predominantly Antibody Deficiency v0.71 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.71 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
Predominantly Antibody Deficiency v0.70 NFKB1 Zornitza Stark Publications for gene: NFKB1 were set to
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 v0.68 NFKB1 Zornitza Stark 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
Predominantly Antibody Deficiency v0.68 DNMT3B Danielle Ariti reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20587527, 10555141, 17359920, 9718351, 10647011, 11102980, 12239717; Phenotypes: mmunodeficiency-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
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Marked gene: SPI1 as ready
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Classified gene: SPI1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.66 Bryony Thompson removed gene:NBAS from the panel
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Marked gene: NBAS as ready
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson changed review comment from: Immunological abnormalities leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Other; to: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Other
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.63 MSH6 Bryony Thompson Marked gene: MSH6 as ready
Predominantly Antibody Deficiency v0.63 MSH6 Bryony Thompson Gene: msh6 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.63 MSH6 Bryony Thompson Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency; immunodeficiency
Predominantly Antibody Deficiency v0.62 MSH6 Bryony Thompson edited their review of gene: MSH6: Changed phenotypes: Mismatch repair cancer syndrome 3 MIM#619097, constitutional mismatch repair deficiency, immunodeficiency
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
Predominantly Antibody Deficiency v0.61 MOGS Zornitza Stark Marked gene: MOGS as ready
Predominantly Antibody Deficiency v0.61 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.61 MOGS Zornitza Stark Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056
Predominantly Antibody Deficiency v0.60 MOGS Zornitza Stark Publications for gene: MOGS were set to
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 MOGS Zornitza Stark reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: 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 v0.57 PIK3CD Zornitza Stark changed review comment from: Multiple individuals reported with GoF variants, most commonly E1021K.; to: Multiple individuals reported with GoF variants, most commonly E1021K. Note recent reports of bi-allelic variants causing disease: severe bacterial infections, and increased chance of autoimmunity.
Predominantly Antibody Deficiency v0.57 PIK3CD Zornitza Stark edited their review of gene: PIK3CD: Changed publications: 24136356, 30018075, 24165795, 31073077; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Predominantly Antibody Deficiency v0.56 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
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 v0.54 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Predominantly Antibody Deficiency v0.54 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.53 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Predominantly Antibody Deficiency v0.52 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
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 v0.50 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.50 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.49 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Predominantly Antibody Deficiency v0.48 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
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 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: 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 v0.45 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Predominantly Antibody Deficiency v0.44 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Predominantly Antibody Deficiency v0.44 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.43 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Marked gene: MS4A1 as ready
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Predominantly Antibody Deficiency v0.42 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
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 v0.40 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Predominantly Antibody Deficiency v0.40 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.39 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Marked gene: CR2 as ready
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Predominantly Antibody Deficiency v0.38 CR2 Zornitza Stark Publications for gene: CR2 were set to
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 v0.36 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.36 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.35 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Marked gene: CD81 as ready
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Predominantly Antibody Deficiency v0.34 CD81 Zornitza Stark Publications for gene: CD81 were set to
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 v0.32 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.32 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.31 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Classified gene: RAC2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Classified gene: SEC61A1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Marked gene: SH3KBP1 as ready
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence).
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
Predominantly Antibody Deficiency v0.26 ATP6AP1 Zornitza Stark Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, MIM# 300972 to Immunodeficiency 47, MIM# 300972; Hepatopathy; Leukopenia; Low copper
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark edited their review of gene: ATP6AP1: Changed phenotypes: Immunodeficiency 47, MIM# 300972, Hepatopathy, Leukopenia, Low copper
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark Marked gene: IRF2BP2 as ready
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence).
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
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Classified gene: IKZF1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.20 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, MIM# 615513
Predominantly Antibody Deficiency v0.18 PIK3CD Zornitza Stark Publications for gene: PIK3CD were set to
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 v0.15 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24136356, 30018075, 24165795; Phenotypes: Immunodeficiency 14, MIM# 615513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Green List (high evidence)
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.10 Zornitza Stark Panel name changed from Predominantly antibody deficiency_MelbourneGenomics_VCGS to Predominantly Antibody Deficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Marked gene: IGHM as ready
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
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
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark Marked gene: ARHGEF1 as ready
Predominantly Antibody Deficiency v0.3 ARHGEF1 Zornitza Stark Gene: arhgef1 has been classified as Red List (Low Evidence).
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
Predominantly Antibody Deficiency v0.1 Zornitza Stark Panel name changed from Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS to Predominantly antibody deficiency_MelbourneGenomics_VCGS
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Predominantly Antibody Deficiency v0.0 Zornitza Stark Added panel Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS