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Phagocyte Defects v1.29 SENP7 Zornitza Stark Publications for gene: SENP7 were set to PMID: 37460201; 38972567
Phagocyte Defects v1.28 SENP7 Zornitza Stark Publications for gene: SENP7 were set to PMID: 37460201
Phagocyte Defects v1.27 SENP7 Zornitza Stark Classified gene: SENP7 as Green List (high evidence)
Phagocyte Defects v1.27 SENP7 Zornitza Stark Gene: senp7 has been classified as Green List (High Evidence).
Phagocyte Defects v1.26 SENP7 Zornitza Stark reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v1.25 ELANE Zornitza Stark edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phagocyte Defects v1.25 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674; Immunodeficiency, common variable, 15, MIM# 620670
Phagocyte Defects v1.24 SEC61A1 Zornitza Stark Classified gene: SEC61A1 as Green List (high evidence)
Phagocyte Defects v1.24 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Phagocyte Defects v1.23 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Changed rating: GREEN
Phagocyte Defects v1.23 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Added comment: PMID 32325141: single individual with de novo missense and phenotype primarily characterised by severe neutropenia.

PMID 28782633: 11 individuals with primarily CVID phenotype, including neutropenia.; Changed publications: 27392076, 32325141, 28782633, 32325141; Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674, Immunodeficiency, common variable, 15, MIM# 620670
Phagocyte Defects v1.23 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Phagocyte Defects v1.23 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.23 TCIRG1 Zornitza Stark Classified gene: TCIRG1 as Amber List (moderate evidence)
Phagocyte Defects v1.23 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
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 v1.21 ELANE Zornitza Stark Publications for gene: ELANE were set to 10581030; 11001877
Phagocyte Defects v1.20 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Phagocyte Defects v1.19 ELANE Zornitza Stark edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)

According to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 10581030, 11001877, 33968054, 3124897
Phagocyte Defects v1.19 HYOU1 Zornitza Stark Classified gene: HYOU1 as Green List (high evidence)
Phagocyte Defects v1.19 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Green List (High Evidence).
Phagocyte Defects v1.18 HYOU1 Achchuthan Shanmugasundram reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35549617; Phenotypes: ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.18 SRP68 Zornitza Stark Marked gene: SRP68 as ready
Phagocyte Defects v1.18 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.18 SRP68 Zornitza Stark Classified gene: SRP68 as Amber List (moderate evidence)
Phagocyte Defects v1.18 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
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 v1.16 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Phagocyte Defects v1.16 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.16 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Phagocyte Defects v1.16 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.16 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Phagocyte Defects v1.16 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.15 SENP7 Elena Savva Marked gene: SENP7 as ready
Phagocyte Defects v1.15 SENP7 Elena Savva Gene: senp7 has been classified as Red List (Low Evidence).
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 v1.14 SRPRA Zornitza Stark Marked gene: SRPRA as ready
Phagocyte Defects v1.14 SRPRA Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.14 SRPRA Zornitza Stark Phenotypes for gene: SRPRA were changed from neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
Phagocyte Defects v1.14 SRPRA Zornitza Stark Classified gene: SRPRA as Amber List (moderate evidence)
Phagocyte Defects v1.14 SRPRA Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.13 SRPRA Zornitza Stark Classified gene: SRPRA as Amber List (moderate evidence)
Phagocyte Defects v1.13 SRPRA Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.12 SRPRA Zornitza Stark reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwachman-Diamond syndrome MONDO:0009833, SRPA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v1.12 SRP19 Zornitza Stark changed review comment from: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; to: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.
Phagocyte Defects v1.12 SRP19 Zornitza Stark Marked gene: SRP19 as ready
Phagocyte Defects v1.12 SRP19 Zornitza Stark Gene: srp19 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.12 SRP19 Zornitza Stark Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related
Phagocyte Defects v1.11 SRP19 Zornitza Stark Classified gene: SRP19 as Amber List (moderate evidence)
Phagocyte Defects v1.11 SRP19 Zornitza Stark Gene: srp19 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.10 SRP19 Zornitza Stark edited their review of gene: SRP19: Added comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; Changed rating: AMBER
Phagocyte Defects v1.10 SRP19 Zornitza Stark reviewed gene: SRP19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, MONDO:0001475, SRP19-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v1.10 Zornitza Stark HPO terms changed from to Unusual infection, HP:0032101
List of related panels changed from to Unusual infection; HP:0032101
Phagocyte Defects v1.9 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Phagocyte Defects v1.9 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Phagocyte Defects v1.8 OTULIN Zornitza Stark edited their review of gene: OTULIN: Changed phenotypes: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Phagocyte Defects v1.8 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Phagocyte Defects v1.8 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Phagocyte Defects v1.8 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Phagocyte Defects v1.8 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
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 v1.6 HYOU1 Zornitza Stark edited their review of gene: HYOU1: Changed rating: AMBER; Changed phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600
Phagocyte Defects v1.6 HYOU1 Zornitza Stark Marked gene: HYOU1 as ready
Phagocyte Defects v1.6 HYOU1 Zornitza Stark Added comment: Comment when marking as ready: Promoted to Amber as two individuals now reported.
Phagocyte Defects v1.6 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.6 HYOU1 Zornitza Stark Publications for gene: HYOU1 were set to 27913302
Phagocyte Defects v1.5 HYOU1 Zornitza Stark Classified gene: HYOU1 as Amber List (moderate evidence)
Phagocyte Defects v1.5 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.4 HYOU1 Peter McNaughton reviewed gene: HYOU1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35822684; Phenotypes: Severe congenital neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.4 CXCR2 Zornitza Stark Classified gene: CXCR2 as Green List (high evidence)
Phagocyte Defects v1.4 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Green List (High Evidence).
Phagocyte Defects v1.3 CXCR2 Peter McNaughton reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34854278; Phenotypes: Neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.3 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Phagocyte Defects v1.2 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
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 v1.1 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.0 Zornitza Stark promoted panel to version 1.0
Phagocyte Defects v0.136 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Phagocyte Defects v0.136 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.136 MKL1 Zornitza Stark Marked gene: MKL1 as ready
Phagocyte Defects v0.136 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.136 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Phagocyte Defects v0.136 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Phagocyte Defects v0.136 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome 1, MIM# 193670
Phagocyte Defects v0.135 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
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 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554, 15536153, 23009155; Phenotypes: WHIM syndrome 1, MIM# 193670; Mode of inheritance: 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 v0.130 WIPF1 Zornitza Stark changed review comment from: Neutropaenia is not a prominent feature. Mostly experimental data linking to macrophage defects.; to: Neutropaenia is not a prominent feature. Mostly experimental data linking to macrophage defects. Gene is on multiple other, more appropriate immunology panels.
Phagocyte Defects v0.130 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Phagocyte Defects v0.130 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.130 WIPF1 Zornitza Stark Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2, MIM# 614493
Phagocyte Defects v0.129 WIPF1 Zornitza Stark Publications for gene: WIPF1 were set to
Phagocyte Defects v0.128 WIPF1 Zornitza Stark Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.127 WIPF1 Zornitza Stark Classified gene: WIPF1 as Amber List (moderate evidence)
Phagocyte Defects v0.127 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.126 WIPF1 Zornitza Stark reviewed gene: WIPF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17312144, 17890224; Phenotypes: Wiskott-Aldrich syndrome 2, MIM# 614493; Mode of inheritance: None
Phagocyte Defects v0.126 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Phagocyte Defects v0.126 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Phagocyte Defects v0.126 VPS45 Zornitza Stark Phenotypes for gene: VPS45 were changed from to Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285
Phagocyte Defects v0.125 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
Phagocyte Defects v0.124 VPS45 Zornitza Stark Mode of inheritance for gene: VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.123 VPS45 Zornitza Stark reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: 23738510, 23599270, 33623350, 32037586, 30294941; Phenotypes: Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.123 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Phagocyte Defects v0.123 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Phagocyte Defects v0.123 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from to Cohen syndrome, MIM# 216550
Phagocyte Defects v0.122 VPS13B Zornitza Stark Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.121 VPS13B Zornitza Stark reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.121 TAZ Zornitza Stark Marked gene: TAZ as ready
Phagocyte Defects v0.121 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Phagocyte Defects v0.121 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
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 v0.119 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v0.119 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Phagocyte Defects v0.119 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Phagocyte Defects v0.119 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib, MIM# 232220
Phagocyte Defects v0.118 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.117 SLC37A4 Zornitza Stark reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.117 NCF4 Zornitza Stark Marked gene: NCF4 as ready
Phagocyte Defects v0.117 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Phagocyte Defects v0.117 NCF4 Zornitza Stark Phenotypes for gene: NCF4 were changed from to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Phagocyte Defects v0.116 NCF4 Zornitza Stark Publications for gene: NCF4 were set to
Phagocyte Defects v0.115 NCF4 Zornitza Stark Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.114 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Phagocyte Defects v0.114 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.114 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Phagocyte Defects v0.113 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Phagocyte Defects v0.112 NCF2 Zornitza Stark Mode of inheritance for gene: NCF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.111 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Phagocyte Defects v0.111 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.111 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Phagocyte Defects v0.110 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Phagocyte Defects v0.109 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.108 SBDS Zornitza Stark Marked gene: SBDS as ready
Phagocyte Defects v0.108 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Phagocyte Defects v0.108 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Phagocyte Defects v0.107 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.106 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.106 LAMTOR2 Zornitza Stark Marked gene: LAMTOR2 as ready
Phagocyte Defects v0.106 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.106 LAMTOR2 Zornitza Stark Phenotypes for gene: LAMTOR2 were changed from to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
Phagocyte Defects v0.105 LAMTOR2 Zornitza Stark Publications for gene: LAMTOR2 were set to
Phagocyte Defects v0.104 LAMTOR2 Zornitza Stark Mode of inheritance for gene: LAMTOR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.103 LAMTOR2 Zornitza Stark Classified gene: LAMTOR2 as Amber List (moderate evidence)
Phagocyte Defects v0.103 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.102 LAMTOR2 Zornitza Stark reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17195838, 24092934; Phenotypes: Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.102 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Phagocyte Defects v0.102 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.102 NCF1 Zornitza Stark Phenotypes for gene: NCF1 were changed from to Chronic granulomatous disease 1, autosomal recessive, MIM# 233700
Phagocyte Defects v0.101 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Phagocyte Defects v0.100 NCF1 Zornitza Stark Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.99 MSN Zornitza Stark Marked gene: MSN as ready
Phagocyte Defects v0.99 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Phagocyte Defects v0.99 MSN Zornitza Stark changed review comment from: Seven males from five unrelated families reported.
Sources: Expert list; to: Seven males from five unrelated families reported. Profound lymphopaenia, fluctuating neutropaenia.
Sources: Expert list
Phagocyte Defects v0.99 JAGN1 Zornitza Stark Marked gene: JAGN1 as ready
Phagocyte Defects v0.99 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.99 JAGN1 Zornitza Stark Phenotypes for gene: JAGN1 were changed from to Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022
Phagocyte Defects v0.98 JAGN1 Zornitza Stark Publications for gene: JAGN1 were set to
Phagocyte Defects v0.97 JAGN1 Zornitza Stark Mode of inheritance for gene: JAGN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.96 JAGN1 Zornitza Stark reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25129144; Phenotypes: Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.96 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
Phagocyte Defects v0.96 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.96 ITGB2 Zornitza Stark Phenotypes for gene: ITGB2 were changed from to Leukocyte adhesion deficiency, MIM# 116920
Phagocyte Defects v0.95 ITGB2 Zornitza Stark Publications for gene: ITGB2 were set to
Phagocyte Defects v0.94 ITGB2 Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.93 ITGB2 Zornitza Stark reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1968911, 1694220, 33957747, 32279896, 31374327; Phenotypes: Leukocyte adhesion deficiency, MIM# 116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.93 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Phagocyte Defects v0.93 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.93 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to Emberger syndrome, MIM# 614038
Phagocyte Defects v0.92 GATA2 Zornitza Stark Publications for gene: GATA2 were set to
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 v0.90 GATA2 Zornitza Stark edited their review of gene: GATA2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.90 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26710799; Phenotypes: Emberger syndrome, MIM# 614038; Mode of inheritance: None
Phagocyte Defects v0.90 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Phagocyte Defects v0.90 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Phagocyte Defects v0.90 FERMT3 Zornitza Stark Phenotypes for gene: FERMT3 were changed from to Leukocyte adhesion deficiency, type III, MIM# 612840
Phagocyte Defects v0.89 FERMT3 Zornitza Stark Publications for gene: FERMT3 were set to
Phagocyte Defects v0.88 FERMT3 Zornitza Stark Mode of inheritance for gene: FERMT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.87 FERMT3 Zornitza Stark reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 19064721; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.87 ELANE Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

Severe congenital neutropaenia is a heterogeneous disorder of haematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations.
Phagocyte Defects v0.87 ELANE Zornitza Stark Marked gene: ELANE as ready
Phagocyte Defects v0.87 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Phagocyte Defects v0.87 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Neutropaenia, cyclic, MIM# 162800
Phagocyte Defects v0.86 ELANE Zornitza Stark Publications for gene: ELANE were set to
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 v0.84 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581030, 11001877; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700, Neutropaenia, cyclic, MIM# 162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.84 CYBB Zornitza Stark Marked gene: CYBB as ready
Phagocyte Defects v0.84 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Phagocyte Defects v0.84 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400
Phagocyte Defects v0.83 CYBB Zornitza Stark Publications for gene: CYBB were set to
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 v0.81 CTSC Zornitza Stark Marked gene: CTSC as ready
Phagocyte Defects v0.81 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Phagocyte Defects v0.81 CTSC Zornitza Stark Phenotypes for gene: CTSC were changed from to Papillon-Lefevre syndrome, MIM# 245000
Phagocyte Defects v0.80 CTSC Zornitza Stark Publications for gene: CTSC were set to
Phagocyte Defects v0.79 CTSC Zornitza Stark Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.78 CTSC Zornitza Stark reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25244098; Phenotypes: Papillon-Lefevre syndrome, MIM# 245000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.78 CSF3R Zornitza Stark Marked gene: CSF3R as ready
Phagocyte Defects v0.78 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Phagocyte Defects v0.78 CSF3R Zornitza Stark Phenotypes for gene: CSF3R were changed from to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
Phagocyte Defects v0.77 CSF3R Zornitza Stark Publications for gene: CSF3R were set to
Phagocyte Defects v0.76 CSF3R Zornitza Stark Mode of inheritance for gene: CSF3R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.75 CSF3R Zornitza Stark reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753537, 26324699, 33511998, 32966608; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.75 CYBA Zornitza Stark Marked gene: CYBA as ready
Phagocyte Defects v0.75 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Phagocyte Defects v0.75 CYBA Zornitza Stark Phenotypes for gene: CYBA were changed from to Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; MONDO:0009308
Phagocyte Defects v0.74 CYBA Zornitza Stark Publications for gene: CYBA were set to
Phagocyte Defects v0.73 CYBA Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.72 CEBPE Zornitza Stark Marked gene: CEBPE as ready
Phagocyte Defects v0.72 CEBPE Zornitza Stark Gene: cebpe has been classified as Green List (High Evidence).
Phagocyte Defects v0.72 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480
Phagocyte Defects v0.71 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480
Phagocyte Defects v0.71 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from to Specific granule deficiency, MIM# 245480
Phagocyte Defects v0.70 CEBPE Zornitza Stark Publications for gene: CEBPE were set to
Phagocyte Defects v0.69 CEBPE Zornitza Stark Mode of inheritance for gene: CEBPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.68 CEBPE Zornitza Stark reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 10359588, 11313242, 31256937, 29651288; Phenotypes: Specific granule deficiency, MIM# 245480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.67 CXCR2 Zornitza Stark Marked gene: CXCR2 as ready
Phagocyte Defects v0.67 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Red List (Low Evidence).
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 v0.66 CLPB Zornitza Stark Marked gene: CLPB as ready
Phagocyte Defects v0.66 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Phagocyte Defects v0.66 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Phagocyte Defects v0.65 CLPB Zornitza Stark Publications for gene: CLPB were set to
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 v0.63 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.63 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405
Phagocyte Defects v0.62 USB1 Zornitza Stark Publications for gene: USB1 were set to 25044170; 27612988
Phagocyte Defects v0.61 USB1 Zornitza Stark reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004881, 20503306, 34004352, 33624217, 33111394, 32936385, 32620997, 31522452; Phenotypes: Poikiloderma with neutropaenia, MIM# 604173, MONDO:0011405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.61 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Phagocyte Defects v0.61 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.61 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Phagocyte Defects v0.60 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Phagocyte Defects v0.59 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.58 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.58 GFI1 Zornitza Stark Marked gene: GFI1 as ready
Phagocyte Defects v0.58 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.58 GFI1 Zornitza Stark Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Phagocyte Defects v0.57 GFI1 Zornitza Stark Publications for gene: GFI1 were set to
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 v0.55 GFI1 Zornitza Stark reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.55 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Phagocyte Defects v0.55 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Phagocyte Defects v0.55 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Phagocyte Defects v0.54 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Phagocyte Defects v0.53 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.52 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.51 SEC61A1 Bryony Thompson Classified gene: SEC61A1 as Amber List (moderate evidence)
Phagocyte Defects v0.51 SEC61A1 Bryony Thompson Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.50 MSN Bryony Thompson Classified gene: MSN as Green List (high evidence)
Phagocyte Defects v0.50 MSN Bryony Thompson Gene: msn has been classified as Green List (High Evidence).
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 v0.46 MPEG1 Zornitza Stark Marked gene: MPEG1 as ready
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Classified gene: MPEG1 as Green List (high evidence)
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
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 v0.44 CSF2RB Bryony Thompson Marked gene: CSF2RB as ready
Phagocyte Defects v0.44 CSF2RB Bryony Thompson Gene: csf2rb has been classified as Green List (High Evidence).
Phagocyte Defects v0.44 CSF2RB Bryony Thompson Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703
Phagocyte Defects v0.43 CSF2RB Bryony Thompson Classified gene: CSF2RB as Green List (high evidence)
Phagocyte Defects v0.43 CSF2RB Bryony Thompson Gene: csf2rb has been classified as Green List (High Evidence).
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 v0.41 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Phagocyte Defects v0.41 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Phagocyte Defects v0.41 CSF2RA Bryony Thompson Classified gene: CSF2RA as Green List (high evidence)
Phagocyte Defects v0.41 CSF2RA Bryony Thompson Gene: csf2ra has been classified as Green List (High Evidence).
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 v0.39 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Phagocyte Defects v0.38 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Phagocyte Defects v0.38 C17orf62 Zornitza Stark Phenotypes for gene: C17orf62 were changed from Chronic granulomatous disease to Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Phagocyte Defects v0.37 C17orf62 Zornitza Stark Tag new gene name tag was added to gene: C17orf62.
Phagocyte Defects v0.37 C17orf62 Zornitza Stark edited their review of gene: C17orf62: Changed phenotypes: Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Phagocyte Defects v0.37 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Phagocyte Defects v0.36 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia
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 v0.35 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.35 FPR1 Zornitza Stark Marked gene: FPR1 as ready
Phagocyte Defects v0.35 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.35 FPR1 Zornitza Stark Phenotypes for gene: FPR1 were changed from to Periodontitis
Phagocyte Defects v0.34 FPR1 Zornitza Stark Publications for gene: FPR1 were set to
Phagocyte Defects v0.33 FPR1 Zornitza Stark Classified gene: FPR1 as Red List (low evidence)
Phagocyte Defects v0.33 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.32 FPR1 Zornitza Stark reviewed gene: FPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29105764, 28371599; Phenotypes: Periodontitis; Mode of inheritance: None
Phagocyte Defects v0.32 ACTB Zornitza Stark Marked gene: ACTB as ready
Phagocyte Defects v0.32 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.32 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310
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 v0.30 ACTB Zornitza Stark Classified gene: ACTB as Amber List (moderate evidence)
Phagocyte Defects v0.30 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.29 ACTB Zornitza Stark reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.29 CFTR Zornitza Stark Marked gene: CFTR as ready
Phagocyte Defects v0.29 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Phagocyte Defects v0.29 CFTR Zornitza Stark Classified gene: CFTR as Green List (high evidence)
Phagocyte Defects v0.29 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
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 v0.27 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
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 v0.25 MKL1 Zornitza Stark Classified gene: MKL1 as Amber List (moderate evidence)
Phagocyte Defects v0.25 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
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 v0.23 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.22 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Phagocyte Defects v0.22 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.22 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.21 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Phagocyte Defects v0.21 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
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 v0.19 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Phagocyte Defects v0.19 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.19 RAC2 Zornitza Stark Phenotypes for gene: RAC2 were changed from to Neutrophil immunodeficiency syndrome, MIM# 608203; Common variable immunodeficiency
Phagocyte Defects v0.18 RAC2 Zornitza Stark Publications for gene: RAC2 were set to
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 v0.17 RAC2 Zornitza Stark reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25512081; Phenotypes: Neutrophil immunodeficiency syndrome, MIM# 608203, Common variable immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.17 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Phagocyte Defects v0.17 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Phagocyte Defects v0.17 SRP54 Zornitza Stark Classified gene: SRP54 as Green List (high evidence)
Phagocyte Defects v0.17 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
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 Marked gene: HYOU1 as ready
Phagocyte Defects v0.15 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Red List (Low Evidence).
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 v0.14 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Phagocyte Defects v0.14 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.14 EFL1 Zornitza Stark Classified gene: EFL1 as Green List (high evidence)
Phagocyte Defects v0.14 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
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 v0.12 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
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 v0.10 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
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 v0.8 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.7 USB1 Zornitza Stark Marked gene: USB1 as ready
Phagocyte Defects v0.7 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.6 USB1 Zornitza Stark Publications for gene: USB1 were set to
Phagocyte Defects v0.6 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.5 Zornitza Stark Panel name changed from Phagocyte defects_MelbourneGenomics_VCGS to Phagocyte Defects
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Phagocyte Defects v0.4 G6PD Zornitza Stark Marked gene: G6PD as ready
Phagocyte Defects v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Phagocyte Defects v0.4 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Phagocyte Defects v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
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 v0.1 Zornitza Stark Panel name changed from Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS to Phagocyte defects_MelbourneGenomics_VCGS
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
Phagocyte Defects v0.0 Zornitza Stark Added panel Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS