PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
321 actions
Vasculitis v0.86 DNASE1 Zornitza Stark commented on gene: DNASE1: PMIDs 36444430 and 37804110 also refer to DNASE1L3. No additional evidence for DNASE1 identified.
Vasculitis v0.86 DNASE1 Zornitza Stark commented on gene: DNASE1: Similarly PMID: 30008451 reports patient with DNASE1L3 variant rather than DNASE1 variant.
Vasculitis v0.86 DNASE1 Zornitza Stark commented on gene: DNASE1: PMID 34161863: paper reports individual with DNASE1L3 deficiency. DNASE1L3 is already Green on the relevant panel.
Vasculitis v0.86 DNASE1 Natasha Brown edited their review of gene: DNASE1: Changed publications: 36444430, 30008451, 34161863, 37804110; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.86 DNASE1 Natasha Brown changed review comment from: PMID: 36444430
Three affected children from one family with HMZ deletion and functional validation (abstract only)

PMID: 30008451
ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2)

PMID: 34161863
Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2)

PMID: 37804110
Animal model - Dnase1L3 defic causes lupus like phenotype in mice; to: PMID: 36444430
Three affected children from one family with HMZ deletion and functional validation (abstract only)

PMID: 30008451
ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2)

PMID: 34161863
Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2)

PMID: 37804110
Animal model - Dnase1L3 defic causes lupus like phenotype in mice

add to immunological disorders super panel
Vasculitis v0.86 DNASE1 Natasha Brown changed review comment from: PMID: 36444430
Three affected children from one family with HMZ deletion and functional validation (abstract only)

PMID: 30008451
ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2)

PMID: 34161863
Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2)

PMID: 37804110
Animal model - Dnase1L3 defic causes lupus like phenotype in mice; to: PMID: 36444430
Three affected children from one family with HMZ deletion and functional validation (abstract only)

PMID: 30008451
ES in cohort of SLE onset <5yo, 7unrelated cases, one of which has HMZ FS (c.289_290delAC/p.Thr97Ilefs*2)

PMID: 34161863
Single patient (history of similarly affected sib) early onset lupus at 15m with HMZ (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2)

PMID: 37804110
Animal model - Dnase1L3 defic causes lupus like phenotype in mice
Vasculitis v0.86 DNASE1 Natasha Brown reviewed gene: DNASE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: infantile lupus; Mode of inheritance: None
Vasculitis v0.86 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Vasculitis v0.86 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Vasculitis v0.86 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Vasculitis v0.85 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Vasculitis v0.84 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.83 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.82 PSTPIP1 Zornitza Stark commented on gene: PSTPIP1: Well established gene-disease association.
Vasculitis v0.82 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.82 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Vasculitis v0.81 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Vasculitis v0.80 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Vasculitis v0.80 LYN Zornitza Stark Phenotypes for gene: LYN were changed from Vasculitis, MONDO:0018882, LYN-related to Autoinflammatory disease, systemic, with vasculitis, MIM# 620376
Vasculitis v0.79 LYN Zornitza Stark reviewed gene: LYN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disease, systemic, with vasculitis, MIM# 620376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.79 LYN Seb Lunke edited their review of gene: LYN: Changed phenotypes: Vasculitis, MONDO:0018882, LYN-related
Vasculitis v0.79 LYN Seb Lunke edited their review of gene: LYN: Changed phenotypes: Immune disorder, MONDO:0005046, LYN-releated
Vasculitis v0.79 LYN Zornitza Stark Phenotypes for gene: LYN were changed from to Vasculitis, MONDO:0018882, LYN-related
Vasculitis v0.78 LYN Zornitza Stark Publications for gene: LYN were set to
Vasculitis v0.77 LYN Zornitza Stark Mode of pathogenicity for gene: LYN was changed from to Other
Vasculitis v0.76 LYN Zornitza Stark Mode of inheritance for gene: LYN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.75 LYN Zornitza Stark Classified gene: LYN as Green List (high evidence)
Vasculitis v0.75 LYN Zornitza Stark Gene: lyn has been classified as Green List (High Evidence).
Vasculitis v0.74 LYN Seb Lunke changed review comment from: Three unrelated individuals from described with three distinct de novo variants in LYN, p.Y508*, p.Q507* and a missense variant, p.Y508F. The PTC variants do not cause NMD, and all three variants have been shown to result in constitutively active LYN kinase by preventing inhibitory phosphorylation of the Y508 regulatory tyrosine. Extensive functional data to confirm gain-of-function effect was presented.

Patient presented perinatally with immunological symptoms, including diffuse purpuric skin lesions, fever, and increased C-reactive protein (CRP). mild anemia, mild leukocytosis, moderate to severe thrombocytopenia. The patients with PTC were more severe, developing liver fibrosis and signs of cirrhosis.

All three patients responded to various degrees to treatment with src kinase inhibitors, dasatinib, etanercept and/or colchicine. Authors named the condition Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI); to: Three unrelated individuals from described with three distinct de novo variants in LYN, p.Y508*, p.Q507* and a missense variant, p.Y508F. The PTC variants do not cause NMD, and all three variants have been shown to result in constitutively active LYN kinase by preventing inhibitory phosphorylation of the Y508 regulatory tyrosine. Extensive functional data to confirm gain-of-function effect was presented.

Patient presented perinatally with immunological symptoms, including diffuse purpuric skin lesions, fever, and increased C-reactive protein (CRP). mild anemia, mild leukocytosis, moderate to severe thrombocytopenia. The patients with PTC were more severe, developing liver fibrosis and signs of cirrhosis.

All three patients responded to various degrees to treatment with src kinase inhibitors, dasatinib, etanercept and/or colchicine. Authors named the condition Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI).

A fourth patient with a Tyr508His has also been described and presented with since birth with recurrent fever, chronic urticaria, atopic dermatitis, arthralgia, increased inflammatory biomarkers, and elevated plasma cytokine levels. Other features not consistent with LYN disease were attributed to prematurity (following maternal HELLP syndrome) and potentially other genetic factors.
Vasculitis v0.74 LYN Seb Lunke edited their review of gene: LYN: Changed publications: 36932076, 36122175
Vasculitis v0.74 LYN Seb Lunke reviewed gene: LYN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36932076; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.74 HCK Zornitza Stark Marked gene: HCK as ready
Vasculitis v0.74 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Vasculitis v0.74 HCK Zornitza Stark Classified gene: HCK as Amber List (moderate evidence)
Vasculitis v0.74 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Vasculitis v0.73 HCK Zornitza Stark gene: HCK was added
gene: HCK was added to Vasculitis. Sources: Expert Review
Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCK were set to 34536415
Phenotypes for gene: HCK were set to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
Mode of pathogenicity for gene: HCK was set to Other
Review for gene: HCK was set to AMBER
Added comment: Single patient with supportive functional data. Gain of function demonstrated.
Sources: Expert Review
Vasculitis v0.72 Zornitza Stark List of related panels changed from to Vasculitis HP:0002633
Vasculitis v0.71 TGFBR1 Sue White commented on gene: TGFBR1
Vasculitis v0.71 DNASE1 Zornitza Stark Marked gene: DNASE1 as ready
Vasculitis v0.71 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Vasculitis v0.71 DNASE1 Zornitza Stark Phenotypes for gene: DNASE1 were changed from to {Systemic lupus erythematosus, susceptibility to} - MIM#152700
Vasculitis v0.70 DNASE1 Zornitza Stark Mode of inheritance for gene: DNASE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.69 DNASE1 Zornitza Stark Classified gene: DNASE1 as Red List (low evidence)
Vasculitis v0.69 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Vasculitis v0.68 DNASE1 Zornitza Stark reviewed gene: DNASE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Systemic lupus erythematosus, susceptibility to} - MIM#152700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.68 MBL2 Zornitza Stark Marked gene: MBL2 as ready
Vasculitis v0.68 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Vasculitis v0.68 MBL2 Zornitza Stark Phenotypes for gene: MBL2 were changed from to {Chronic infections, due to MBL deficiency} 614372
Vasculitis v0.67 MBL2 Zornitza Stark Mode of inheritance for gene: MBL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.66 MBL2 Zornitza Stark Classified gene: MBL2 as Red List (low evidence)
Vasculitis v0.66 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Vasculitis v0.65 MBL2 Zornitza Stark Classified gene: MBL2 as Red List (low evidence)
Vasculitis v0.65 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Vasculitis v0.64 MBL2 Zornitza Stark reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Chronic infections, due to MBL deficiency} 614372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.64 LYN Alison Yeung Marked gene: LYN as ready
Vasculitis v0.64 LYN Alison Yeung Added comment: Comment when marking as ready: No human disease association published. Mouse models suggest role in autoinflammatory pathways.
Vasculitis v0.64 LYN Alison Yeung Gene: lyn has been classified as Red List (Low Evidence).
Vasculitis v0.64 LYN Alison Yeung Mode of inheritance for gene: LYN was changed from Unknown to Unknown
Vasculitis v0.63 LYN Alison Yeung Classified gene: LYN as Red List (low evidence)
Vasculitis v0.63 LYN Alison Yeung Gene: lyn has been classified as Red List (Low Evidence).
Vasculitis v0.62 LYN Alison Yeung reviewed gene: LYN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Vasculitis v0.62 APOA2 Elena Savva Marked gene: APOA2 as ready
Vasculitis v0.62 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Vasculitis v0.62 APOA2 Elena Savva Phenotypes for gene: APOA2 were changed from Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890 to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Vasculitis v0.62 APOA2 Elena Savva Publications for gene: APOA2 were set to PMID: 12522687; 2107739; 25904114
Vasculitis v0.62 APOA2 Elena Savva Mode of inheritance for gene: APOA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.62 APOA2 Elena Savva Classified gene: APOA2 as Red List (low evidence)
Vasculitis v0.62 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Vasculitis v0.61 APOA2 Elena Savva Phenotypes for gene: APOA2 were changed from to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Vasculitis v0.61 APOA2 Elena Savva Publications for gene: APOA2 were set to
Vasculitis v0.61 APOA2 Elena Savva Mode of inheritance for gene: APOA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.61 APOA2 Elena Savva Classified gene: APOA2 as Red List (low evidence)
Vasculitis v0.61 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Vasculitis v0.60 APOA2 Elena Savva reviewed gene: APOA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12522687, 2107739, 25904114; Phenotypes: Apolipoprotein A-II deficiency, {Hypercholesterolemia, familial, modifier of} MIM#143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.60 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Vasculitis v0.60 CASP8 Zornitza Stark Gene: casp8 has been classified as Red List (Low Evidence).
Vasculitis v0.60 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Vasculitis v0.59 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Vasculitis v0.58 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.57 CASP8 Zornitza Stark Classified gene: CASP8 as Red List (low evidence)
Vasculitis v0.57 CASP8 Zornitza Stark Gene: casp8 has been classified as Red List (Low Evidence).
Vasculitis v0.56 CASP8 Zornitza Stark reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.56 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Vasculitis v0.56 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Vasculitis v0.56 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Vasculitis v0.55 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Vasculitis v0.54 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.53 NLRP12 Zornitza Stark reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Vasculitis v0.53 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.53 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.53 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Vasculitis v0.53 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Vasculitis v0.53 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Vasculitis v0.52 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Vasculitis v0.51 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.50 SAMHD1 Samantha Ayres reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271, 20301648; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.50 C8A Zornitza Stark Marked gene: C8A as ready
Vasculitis v0.50 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Vasculitis v0.50 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Vasculitis v0.49 C8A Zornitza Stark Publications for gene: C8A were set to
Vasculitis v0.48 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.47 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Vasculitis v0.47 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Vasculitis v0.46 C8A Zornitza Stark reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.46 C4A Zornitza Stark Marked gene: C4A as ready
Vasculitis v0.46 C4A Zornitza Stark Gene: c4a has been classified as Amber List (Moderate Evidence).
Vasculitis v0.46 C4A Zornitza Stark Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Vasculitis v0.45 C4A Zornitza Stark Publications for gene: C4A were set to
Vasculitis v0.44 C4A Zornitza Stark Mode of inheritance for gene: C4A was changed from Unknown to Other
Vasculitis v0.43 C4A Zornitza Stark Classified gene: C4A as Amber List (moderate evidence)
Vasculitis v0.43 C4A Zornitza Stark Gene: c4a has been classified as Amber List (Moderate Evidence).
Vasculitis v0.42 C4A Zornitza Stark Tag SV/CNV tag was added to gene: C4A.
Vasculitis v0.42 C4A Zornitza Stark reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other
Vasculitis v0.42 NCF4 Zornitza Stark Marked gene: NCF4 as ready
Vasculitis v0.42 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Vasculitis v0.42 NCF4 Zornitza Stark Phenotypes for gene: NCF4 were changed from to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Vasculitis v0.41 NCF4 Zornitza Stark Publications for gene: NCF4 were set to
Vasculitis v0.41 NCF2 Zornitza Stark Classified gene: NCF2 as Green List (high evidence)
Vasculitis v0.41 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Vasculitis v0.40 NCF2 Zornitza Stark changed review comment from: Association with vasculitis is unclear, with some proposing variants in this gene are a risk factor.; to: Association with vasculitis is unclear, with some proposing variants in this gene are a risk factor.

Lupus-like skin lesions in carriers or adults with mild disease.
Vasculitis v0.40 NCF4 Zornitza Stark Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.39 NCF2 Zornitza Stark edited their review of gene: NCF2: Changed rating: GREEN
Vasculitis v0.39 NCF4 Zornitza Stark reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.39 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Vasculitis v0.39 NCF2 Zornitza Stark Gene: ncf2 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.39 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Vasculitis v0.38 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Vasculitis v0.37 NCF2 Zornitza Stark Mode of inheritance for gene: NCF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.36 NCF2 Zornitza Stark Classified gene: NCF2 as Amber List (moderate evidence)
Vasculitis v0.36 NCF2 Zornitza Stark Gene: ncf2 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.35 NCF2 Zornitza Stark reviewed gene: NCF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35167971; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.35 NCF4 Krithika Murali reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692703, 16880254, 29969437; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.35 NCF2 Krithika Murali reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.35 TAP2 Zornitza Stark Marked gene: TAP2 as ready
Vasculitis v0.35 TAP2 Zornitza Stark Gene: tap2 has been classified as Green List (High Evidence).
Vasculitis v0.35 TAP2 Zornitza Stark Classified gene: TAP2 as Green List (high evidence)
Vasculitis v0.35 TAP2 Zornitza Stark Gene: tap2 has been classified as Green List (High Evidence).
Vasculitis v0.34 TAP2 Zornitza Stark gene: TAP2 was added
gene: TAP2 was added to Vasculitis. Sources: Expert Review
Mode of inheritance for gene: TAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAP2 were set to 7517574; 9232449; 10560675; 27861817
Phenotypes for gene: TAP2 were set to Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis
Review for gene: TAP2 was set to GREEN
Added comment: 5 individuals from 4 unrelated families reported with TAP2 variants resulting in BLS type 1; two mouse models

Homozygous missense variants resulting in premature stop codons were identified.

Individuals typically presented with recurrent respiratory bacterial infections and reduced CD8+ cells with granulomatous lesions and/or skin vasculitis.
Sources: Expert Review
Vasculitis v0.33 ADA2 Zornitza Stark Tag founder tag was added to gene: ADA2.
Vasculitis v0.33 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Vasculitis v0.33 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Vasculitis v0.33 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Vasculitis v0.32 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Vasculitis v0.31 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.30 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.30 CST3 Zornitza Stark Marked gene: CST3 as ready
Vasculitis v0.30 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.30 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, MIM# 105150
Vasculitis v0.29 CST3 Zornitza Stark Publications for gene: CST3 were set to
Vasculitis v0.28 CST3 Zornitza Stark Mode of inheritance for gene: CST3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.27 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Vasculitis v0.27 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.26 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Vasculitis v0.26 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: 3495457; Phenotypes: Cerebral amyloid angiopathy, MIM# 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.26 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Vasculitis v0.26 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Green List (High Evidence).
Vasculitis v0.26 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310
Vasculitis v0.25 NOTCH3 Zornitza Stark Publications for gene: NOTCH3 were set to
Vasculitis v0.24 NOTCH3 Zornitza Stark Mode of inheritance for gene: NOTCH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.23 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.23 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Vasculitis v0.23 NOD2 Zornitza Stark Gene: nod2 has been classified as Red List (Low Evidence).
Vasculitis v0.23 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Vasculitis v0.22 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Vasculitis v0.21 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.20 NOD2 Zornitza Stark Classified gene: NOD2 as Red List (low evidence)
Vasculitis v0.20 NOD2 Zornitza Stark Gene: nod2 has been classified as Red List (Low Evidence).
Vasculitis v0.19 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: RED; Mode of pathogenicity: None; Publications: 15459013, 23699845; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.19 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Vasculitis v0.19 WDR1 Zornitza Stark Gene: wdr1 has been classified as Red List (Low Evidence).
Vasculitis v0.19 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Vasculitis v0.18 WDR1 Zornitza Stark Publications for gene: WDR1 were set to
Vasculitis v0.17 WDR1 Zornitza Stark Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.16 WDR1 Zornitza Stark Classified gene: WDR1 as Red List (low evidence)
Vasculitis v0.16 WDR1 Zornitza Stark Gene: wdr1 has been classified as Red List (Low Evidence).
Vasculitis v0.15 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: RED; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.15 MASP2 Zornitza Stark Marked gene: MASP2 as ready
Vasculitis v0.15 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Vasculitis v0.15 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Vasculitis v0.14 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.13 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Vasculitis v0.13 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Vasculitis v0.12 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.12 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Vasculitis v0.12 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Vasculitis v0.12 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Vasculitis v0.11 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Vasculitis v0.10 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.9 ADAM17 Zornitza Stark Classified gene: ADAM17 as Red List (low evidence)
Vasculitis v0.9 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Vasculitis v0.8 ADAM17 Zornitza Stark reviewed gene: ADAM17: Rating: RED; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.8 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Vasculitis v0.6 Sebastian Lunke Panel name changed from Vasculitis_VCGS to Vasculitis
Panel types changed to Victorian Clinical Genetics Services
Vasculitis v0.5 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Vasculitis v0.5 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Vasculitis v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Vasculitis v0.4 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Vasculitis v0.3 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.2 TNFRSF1A Belinda Chong reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10199409; Phenotypes: Periodic fever, familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vasculitis v0.2 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Vasculitis v0.2 TMEM173 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: STING1
Vasculitis v0.2 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Vasculitis v0.2 TMEM173 Zornitza Stark Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934
Vasculitis v0.1 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.0 TMEM173 Zornitza Stark reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.0 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR1 was set to Unknown
Vasculitis v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAS was set to Unknown
Vasculitis v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC13D was set to Unknown
Vasculitis v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTR was set to Unknown
Vasculitis v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC37 was set to Unknown
Vasculitis v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRNT1 was set to Unknown
Vasculitis v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREX1 was set to Unknown
Vasculitis v0.0 TRAP1 Zornitza Stark gene: TRAP1 was added
gene: TRAP1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAP1 was set to Unknown
Vasculitis v0.0 TNFRSF1A Zornitza Stark gene: TNFRSF1A was added
gene: TNFRSF1A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF1A was set to Unknown
Vasculitis v0.0 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM173 was set to Unknown
Vasculitis v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR2 was set to Unknown
Vasculitis v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBR1 was set to Unknown
Vasculitis v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP2 was set to Unknown
Vasculitis v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STX11 was set to Unknown
Vasculitis v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC37A4 was set to Unknown
Vasculitis v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A10 was set to Unknown
Vasculitis v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC29A3 was set to Unknown
Vasculitis v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SKIV2L was set to Unknown
Vasculitis v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SH2D1A was set to Unknown
Vasculitis v0.0 SERPING1 Zornitza Stark gene: SERPING1 was added
gene: SERPING1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPING1 was set to Unknown
Vasculitis v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMHD1 was set to Unknown
Vasculitis v0.0 RNF213 Zornitza Stark gene: RNF213 was added
gene: RNF213 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNF213 was set to Unknown
Vasculitis v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2C was set to Unknown
Vasculitis v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2B was set to Unknown
Vasculitis v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2A was set to Unknown
Vasculitis v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to Unknown
Vasculitis v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBCK1 was set to Unknown
Vasculitis v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Vasculitis v0.0 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSTPIP1 was set to Unknown
Vasculitis v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSMB8 was set to Unknown
Vasculitis v0.0 PRKCD Zornitza Stark gene: PRKCD was added
gene: PRKCD was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKCD was set to Unknown
Vasculitis v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRF1 was set to Unknown
Vasculitis v0.0 PLCG2 Zornitza Stark gene: PLCG2 was added
gene: PLCG2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLCG2 was set to Unknown
Vasculitis v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R1 was set to Unknown
Vasculitis v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NRAS was set to Unknown
Vasculitis v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH3 was set to Unknown
Vasculitis v0.0 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOD2 was set to Unknown
Vasculitis v0.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NLRP3 was set to Unknown
Vasculitis v0.0 NLRP12 Zornitza Stark gene: NLRP12 was added
gene: NLRP12 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NLRP12 was set to Unknown
Vasculitis v0.0 NCF4 Zornitza Stark gene: NCF4 was added
gene: NCF4 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF4 was set to Unknown
Vasculitis v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF2 was set to Unknown
Vasculitis v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF1 was set to Unknown
Vasculitis v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MVK was set to Unknown
Vasculitis v0.0 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEFV was set to Unknown
Vasculitis v0.0 MBL2 Zornitza Stark gene: MBL2 was added
gene: MBL2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBL2 was set to Unknown
Vasculitis v0.0 MASP2 Zornitza Stark gene: MASP2 was added
gene: MASP2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MASP2 was set to Unknown
Vasculitis v0.0 LYZ Zornitza Stark gene: LYZ was added
gene: LYZ was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LYZ was set to Unknown
Vasculitis v0.0 LYN Zornitza Stark gene: LYN was added
gene: LYN was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LYN was set to Unknown
Vasculitis v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRBA was set to Unknown
Vasculitis v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LPIN2 was set to Unknown
Vasculitis v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB2 was set to Unknown
Vasculitis v0.0 IL36RN Zornitza Stark gene: IL36RN was added
gene: IL36RN was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL36RN was set to Unknown
Vasculitis v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL2RA was set to Unknown
Vasculitis v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL1RN was set to Unknown
Vasculitis v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10RB was set to Unknown
Vasculitis v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10RA was set to Unknown
Vasculitis v0.0 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10 was set to Unknown
Vasculitis v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IKBKG was set to Unknown
Vasculitis v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ICOS was set to Unknown
Vasculitis v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HTRA1 was set to Unknown
Vasculitis v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to Unknown
Vasculitis v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS4 was set to Unknown
Vasculitis v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS1 was set to Unknown
Vasculitis v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GUCY2C was set to Unknown
Vasculitis v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GUCY1A3 was set to Unknown
Vasculitis v0.0 GSN Zornitza Stark gene: GSN was added
gene: GSN was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GSN was set to Unknown
Vasculitis v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLA was set to Unknown
Vasculitis v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC3 was set to Unknown
Vasculitis v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP3 was set to Unknown
Vasculitis v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGA was set to Unknown
Vasculitis v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FERMT1 was set to Unknown
Vasculitis v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBN1 was set to Unknown
Vasculitis v0.0 FASLG Zornitza Stark gene: FASLG was added
gene: FASLG was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FASLG was set to Unknown
Vasculitis v0.0 FAS Zornitza Stark gene: FAS was added
gene: FAS was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAS was set to Unknown
Vasculitis v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOCK8 was set to Unknown
Vasculitis v0.0 DNASE1L3 Zornitza Stark gene: DNASE1L3 was added
gene: DNASE1L3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNASE1L3 was set to Unknown
Vasculitis v0.0 DNASE1 Zornitza Stark gene: DNASE1 was added
gene: DNASE1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNASE1 was set to Unknown
Vasculitis v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCLRE1C was set to Unknown
Vasculitis v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYBB was set to Unknown
Vasculitis v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYBA was set to Unknown
Vasculitis v0.0 CST3 Zornitza Stark gene: CST3 was added
gene: CST3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CST3 was set to Unknown
Vasculitis v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL7A1 was set to Unknown
Vasculitis v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Vasculitis v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL3A1 was set to Unknown
Vasculitis v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFP was set to Unknown
Vasculitis v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFI was set to Unknown
Vasculitis v0.0 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR5 was set to Unknown
Vasculitis v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFH was set to Unknown
Vasculitis v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD40LG was set to Unknown
Vasculitis v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CBS was set to Unknown
Vasculitis v0.0 CASP8 Zornitza Stark gene: CASP8 was added
gene: CASP8 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASP8 was set to Unknown
Vasculitis v0.0 CASP10 Zornitza Stark gene: CASP10 was added
gene: CASP10 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASP10 was set to Unknown
Vasculitis v0.0 C9 Zornitza Stark gene: C9 was added
gene: C9 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C9 was set to Unknown
Vasculitis v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C8B was set to Unknown
Vasculitis v0.0 C8A Zornitza Stark gene: C8A was added
gene: C8A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C8A was set to Unknown
Vasculitis v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C7 was set to Unknown
Vasculitis v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C6 was set to Unknown
Vasculitis v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C5 was set to Unknown
Vasculitis v0.0 C4A Zornitza Stark gene: C4A was added
gene: C4A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C4A was set to Unknown
Vasculitis v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C3 was set to Unknown
Vasculitis v0.0 C2 Zornitza Stark gene: C2 was added
gene: C2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C2 was set to Unknown
Vasculitis v0.0 C1R Zornitza Stark gene: C1R was added
gene: C1R was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1R was set to Unknown
Vasculitis v0.0 C1QC Zornitza Stark gene: C1QC was added
gene: C1QC was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QC was set to Unknown
Vasculitis v0.0 C1QB Zornitza Stark gene: C1QB was added
gene: C1QB was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QB was set to Unknown
Vasculitis v0.0 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QA was set to Unknown
Vasculitis v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BTK was set to Unknown
Vasculitis v0.0 BMPR2 Zornitza Stark gene: BMPR2 was added
gene: BMPR2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMPR2 was set to Unknown
Vasculitis v0.0 APOA2 Zornitza Stark gene: APOA2 was added
gene: APOA2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOA2 was set to Unknown
Vasculitis v0.0 APOA1 Zornitza Stark gene: APOA1 was added
gene: APOA1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOA1 was set to Unknown
Vasculitis v0.0 AICDA Zornitza Stark gene: AICDA was added
gene: AICDA was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AICDA was set to Unknown
Vasculitis v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAR was set to Unknown
Vasculitis v0.0 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAM17 was set to Unknown
Vasculitis v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADA2 was set to Unknown
Vasculitis v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTA2 was set to Unknown
Vasculitis v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACP5 was set to Unknown
Vasculitis v0.0 Zornitza Stark Added panel Vasculitis_VCGS