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Phagocyte Defects v1.33 MKL1 Zornitza Stark Tag new gene name tag was added to gene: MKL1.
Phagocyte Defects v1.32 DBF4 Bryony Thompson gene: DBF4 was added
gene: DBF4 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: DBF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBF4 were set to 36841265
Phenotypes for gene: DBF4 were set to severe congenital neutropenia MONDO:0018542
Review for gene: DBF4 was set to RED
Added comment: A single case with a homozygous variant & some supporting in vitro functional assay.
Sources: Expert list
Phagocyte Defects v1.30 CCR2 Bryony Thompson gene: CCR2 was added
gene: CCR2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCR2 were set to 38157855
Phenotypes for gene: CCR2 were set to Polycystic lung disease MIM#219600
Review for gene: CCR2 was set to GREEN
Added comment: CCR2 deficiency was found to cause pulmonary alveolar proteinosis (PAP), polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues. 9 children from 5 independent kindreds with biallelic variants, homozygous in 6 cases & compound heterozygous in 3 were identified. Classified as a congenital defect of phagocyte number or function (subcategory defects of motility) by the IUIS IEI committee.
Sources: Expert list
Phagocyte Defects v1.26 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phagocyte Defects v1.22 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Phagocyte Defects. Sources: Expert Review
Mode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCIRG1 were set to 24753205; 35573728
Phenotypes for gene: TCIRG1 were set to severe congenital neutropenia, MONDO:0018542
Review for gene: TCIRG1 was set to AMBER
Added comment: Biallelic variants in this gene have already been associated with Osteopetrosis (MIM #259700).

Newer reports of individuals with monoallelic TCIRG1 variants and congenital neutropenia.

PMID:24753205 reported a five generation family segregating a novel SNV in TCIRG1 (p.Arg736Ser) with congenital neutropenia.

PMID:35573728 - A seven years old patient suspected for Congenital Neutropenia, having symptoms related to chronic infections was reported with p.Val52Leu variant.
Sources: Expert Review
Phagocyte Defects v1.20 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Phagocyte Defects v1.17 SRP68 Zornitza Stark gene: SRP68 was added
gene: SRP68 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP68 were set to 32273475
Phenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
Review for gene: SRP68 was set to AMBER
Added comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided.
Sources: Expert list
Phagocyte Defects v1.16 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Phagocyte Defects v1.15 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Phagocyte Defects. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Phagocyte Defects v1.10 SRPRA Pasquale Barbaro gene: SRPRA was added
gene: SRPRA was added to Phagocyte Defects. Sources: Literature
Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRPRA were set to PMID: 36223592
Phenotypes for gene: SRPRA were set to neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency
Penetrance for gene: SRPRA were set to unknown
Review for gene: SRPRA was set to RED
Added comment: One denovo variant identified in one patient
Sources: Literature
Phagocyte Defects v1.10 SRP19 Pasquale Barbaro gene: SRP19 was added
gene: SRP19 was added to Phagocyte Defects. Sources: Literature
Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP19 were set to PMID: 36223592
Phenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency
Penetrance for gene: SRP19 were set to unknown
Review for gene: SRP19 was set to RED
Added comment: Reported in 5 patients from one kindred
Sources: Literature
Phagocyte Defects v1.9 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Phagocyte Defects v1.7 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Phagocyte Defects. Sources: Literature
Mode of inheritance for gene: OTULIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTULIN were set to 35587511
Phenotypes for gene: OTULIN were set to Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related
Review for gene: OTULIN was set to GREEN
Added comment: Multiple individuals reported with haploinsufficiency of OTULIN and severe staphylococcal disease, with life-threatening skin or pulmonary necrosis. Functional data.

Note bi-allelic variants case early-onset autoinflammatory condition called OTULIN-related autoinflammatory syndrome (ORAS).
Sources: Literature
Phagocyte Defects v1.2 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.134 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.133 WAS Zornitza Stark Marked gene: WAS as ready
Phagocyte Defects v0.133 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Phagocyte Defects v0.133 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Neutropaenia, severe congenital, X-linked, MIM# 300299
Phagocyte Defects v0.132 WAS Zornitza Stark Publications for gene: WAS were set to
Phagocyte Defects v0.131 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v0.130 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242115, 16804117, 19006568; Phenotypes: Neutropaenia, severe congenital, X-linked, MIM# 300299; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v0.128 WIPF1 Zornitza Stark Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.124 VPS45 Zornitza Stark Mode of inheritance for gene: VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.122 VPS13B Zornitza Stark Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.120 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v0.118 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.115 NCF4 Zornitza Stark Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.112 NCF2 Zornitza Stark Mode of inheritance for gene: NCF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.109 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.107 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.104 LAMTOR2 Zornitza Stark Mode of inheritance for gene: LAMTOR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.100 NCF1 Zornitza Stark Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.97 JAGN1 Zornitza Stark Mode of inheritance for gene: JAGN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.94 ITGB2 Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.91 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.88 FERMT3 Zornitza Stark Mode of inheritance for gene: FERMT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.85 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.82 CYBB Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v0.79 CTSC Zornitza Stark Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.76 CSF3R Zornitza Stark Mode of inheritance for gene: CSF3R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.73 CYBA Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.69 CEBPE Zornitza Stark Mode of inheritance for gene: CEBPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.67 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Expert list
Phagocyte Defects v0.64 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.59 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.56 GFI1 Zornitza Stark Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.53 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.48 MSN Bryony Thompson gene: MSN was added
gene: MSN was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Phagocyte Defects v0.47 SEC61A1 Bryony Thompson gene: SEC61A1 was added
gene: SEC61A1 was added to Phagocyte Defects. 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; 32325141; 28782633
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia
Phagocyte Defects v0.45 MPEG1 Zornitza Stark gene: MPEG1 was added
gene: MPEG1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754
Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223
Review for gene: MPEG1 was set to GREEN
Added comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.

Four individuals reported, functional data, including animal model.
Sources: Expert list
Phagocyte Defects v0.42 CSF2RB Bryony Thompson gene: CSF2RB was added
gene: CSF2RB was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703
Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370
Review for gene: CSF2RB was set to GREEN
Added comment: At least 2 unrelated cases reported and multiple supporting mouse models. Condition includes impaired alveolar macrophages.
Sources: Expert list
Phagocyte Defects v0.40 CSF2RA Bryony Thompson gene: CSF2RA was added
gene: CSF2RA was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CSF2RA were set to 18955567; 18955570; 31326401; 28233860; 28212655; 24279752
Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770
Review for gene: CSF2RA was set to GREEN
Added comment: >3 unrelated families reported with impairment of alveolar macrophages, and supporting mouse models
Sources: Expert list
Phagocyte Defects v0.37 C17orf62 Zornitza Stark Tag new gene name tag was added to gene: C17orf62.
Phagocyte Defects v0.36 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.31 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.28 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM# 219700
Review for gene: CFTR was set to GREEN
Added comment: Although CF is mostly detected through newborn screening, some adults with milder phenotypes can present with recurrent respiratory infections.
Sources: Expert list
Phagocyte Defects v0.26 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name).
Sources: Expert list
Phagocyte Defects v0.24 MKL1 Zornitza Stark gene: MKL1 was added
gene: MKL1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 32128589; 26224645
Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency
Review for gene: MKL1 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.20 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to 27994071; 27557945; 29751004
Review for gene: WDR1 was set to GREEN
Added comment: Seven families reported with immunological phenotypes and bi-allelic variants in this gene, three of these had a predominantly phagocyte/neutrophil defects.
Sources: Expert list
Phagocyte Defects v0.18 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.16 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP54 were set to 29914977; 28972538
Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Review for gene: SRP54 was set to GREEN
Added comment: Over 25 individuals reported with Shwachman-Diamond like phenotype.
Sources: Expert list
Phagocyte Defects v0.15 HYOU1 Zornitza Stark gene: HYOU1 was added
gene: HYOU1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYOU1 were set to 27913302
Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600
Review for gene: HYOU1 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Phagocyte Defects v0.13 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Review for gene: EFL1 was set to GREEN
Added comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified.
Sources: Expert list
Phagocyte Defects v0.11 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052; Short stature; Exocrine pancreatic insufficiency; Pancytopaenia; Shwachman-Diamond syndrome
Review for gene: DNAJC21 was set to GREEN
Added comment: Over ten unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.9 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036; 28369034
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Review for gene: SMARCD2 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Expert list
Phagocyte Defects v0.6 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.3 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Phagocyte defects_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Neutrophil leukocytosis
Sources: Expert list
Phagocyte Defects v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Phagocyte defects_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
Phagocyte Defects v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Phagocyte defects_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
Phagocyte Defects v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: VPS45 was set to Unknown
Phagocyte Defects v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: VPS13B was set to Unknown
Phagocyte Defects v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: USB1 was set to Unknown
Phagocyte Defects v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TAZ was set to Unknown
Phagocyte Defects v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SLC37A4 was set to Unknown
Phagocyte Defects v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SLC35C1 was set to Unknown
Phagocyte Defects v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SBDS was set to Unknown
Phagocyte Defects v0.0 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RAC2 was set to Unknown
Phagocyte Defects v0.0 NCF4 Zornitza Stark gene: NCF4 was added
gene: NCF4 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NCF4 was set to Unknown
Phagocyte Defects v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NCF2 was set to Unknown
Phagocyte Defects v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NCF1 was set to Unknown
Phagocyte Defects v0.0 LAMTOR2 Zornitza Stark gene: LAMTOR2 was added
gene: LAMTOR2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: LAMTOR2 was set to Unknown
Phagocyte Defects v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: JAGN1 was set to Unknown
Phagocyte Defects v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ITGB2 was set to Unknown
Phagocyte Defects v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: HAX1 was set to Unknown
Phagocyte Defects v0.0 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: GFI1 was set to Unknown
Phagocyte Defects v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: GATA2 was set to Unknown
Phagocyte Defects v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: G6PC3 was set to Unknown
Phagocyte Defects v0.0 FPR1 Zornitza Stark gene: FPR1 was added
gene: FPR1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FPR1 was set to Unknown
Phagocyte Defects v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FERMT3 was set to Unknown
Phagocyte Defects v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ELANE was set to Unknown
Phagocyte Defects v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CYBB was set to Unknown
Phagocyte Defects v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CYBA was set to Unknown
Phagocyte Defects v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to Phagocyte defects_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
Phagocyte Defects v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CTSC was set to Unknown
Phagocyte Defects v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CSF3R was set to Unknown
Phagocyte Defects v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CLPB was set to Unknown
Phagocyte Defects v0.0 CEBPE Zornitza Stark gene: CEBPE was added
gene: CEBPE was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CEBPE was set to Unknown
Phagocyte Defects v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ACTB was set to Unknown