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Mendeliome v1.733 TNFRSF9 Zornitza Stark Phenotypes for gene: TNFRSF9 were changed from EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection to Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Mendeliome v1.732 TNFRSF9 Zornitza Stark edited their review of gene: TNFRSF9: Changed phenotypes: Immunodeficiency 109 with lymphoproliferation, MIM# 620282, EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection
Mendeliome v1.111 TNFSF13 Zornitza Stark Marked gene: TNFSF13 as ready
Mendeliome v1.111 TNFSF13 Zornitza Stark Gene: tnfsf13 has been classified as Red List (Low Evidence).
Mendeliome v1.111 TNFSF13 Zornitza Stark gene: TNFSF13 was added
gene: TNFSF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF13 were set to 32298700
Phenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
Review for gene: TNFSF13 was set to RED
Added comment: Single individual, consanguineous parents.
Sources: Literature
Mendeliome v0.12711 TNFSF4 Zornitza Stark Marked gene: TNFSF4 as ready
Mendeliome v0.12711 TNFSF4 Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12711 TNFSF4 Zornitza Stark Phenotypes for gene: TNFSF4 were changed from to {Myocardial infarction, susceptibility to} 608446
Mendeliome v0.12710 TNFSF4 Zornitza Stark Mode of inheritance for gene: TNFSF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12709 TNFSF4 Zornitza Stark Classified gene: TNFSF4 as Red List (low evidence)
Mendeliome v0.12709 TNFSF4 Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12708 TNFSF4 Zornitza Stark reviewed gene: TNFSF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Myocardial infarction, susceptibility to} 608446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12708 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Mendeliome v0.12708 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Mendeliome v0.12708 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2, MIM# 259710
Mendeliome v0.12707 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Mendeliome v0.12706 TNFSF11 Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFSF11 Zornitza Stark edited their review of gene: TNFSF11: Changed publications: 17632511, 32048120, 10984520
Mendeliome v0.12705 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM# 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from to Paget disease of bone 5, juvenile-onset, MIM# 239000
Mendeliome v0.12704 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Mendeliome v0.12703 TNFRSF11B Zornitza Stark Mode of inheritance for gene: TNFRSF11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12702 TNFRSF11B Zornitza Stark reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset, MIM# 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11396 C1QTNF5 Zornitza Stark Publications for gene: C1QTNF5 were set to
Mendeliome v0.11380 C1QTNF5 Ain Roesley Phenotypes for gene: C1QTNF5 were changed from to Retinal degeneration, late-onset, autosomal dominant MIM#605670
Mendeliome v0.11379 C1QTNF5 Ain Roesley Marked gene: C1QTNF5 as ready
Mendeliome v0.11380 C1QTNF5 Ain Roesley Publications for gene: C1QTNF5 were set to
Mendeliome v0.11379 C1QTNF5 Ain Roesley Gene: c1qtnf5 has been classified as Green List (High Evidence).
Mendeliome v0.11378 C1QTNF5 Ain Roesley Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.11378 C1QTNF5 Ain Roesley Mode of inheritance for gene: C1QTNF5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11377 C1QTNF5 Ain Roesley reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33949280, 12944416, 30451557, 28939808, : 32036094; Phenotypes: Retinal degeneration, late-onset, autosomal dominant MIM#605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Marked gene: TNFRSF10B as ready
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Gene: tnfrsf10b has been classified as Red List (Low Evidence).
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Phenotypes for gene: TNFRSF10B were changed from to Squamous cell carcinoma, head and neck MIM#275355
Mendeliome v0.11031 TNFRSF10B Zornitza Stark Publications for gene: TNFRSF10B were set to
Mendeliome v0.11030 TNFRSF10B Zornitza Stark Mode of inheritance for gene: TNFRSF10B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11029 TNFRSF10B Zornitza Stark Classified gene: TNFRSF10B as Red List (low evidence)
Mendeliome v0.11029 TNFRSF10B Zornitza Stark Gene: tnfrsf10b has been classified as Red List (Low Evidence).
Mendeliome v0.11004 TNFRSF10B Paul De Fazio reviewed gene: TNFRSF10B: Rating: RED; Mode of pathogenicity: None; Publications: 9721851; Phenotypes: Squamous cell carcinoma, head and neck MIM#275355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Mendeliome v0.10011 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Mendeliome v0.10010 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Inflammatory bowel disease
Mendeliome v0.9864 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to
Mendeliome v0.9863 TNFAIP3 Zornitza Stark Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9862 TNFAIP3 Zornitza Stark reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642243, 34030699, 33446651, 32521965, 31299923; Phenotypes: Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744, Inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5266 TNF Zornitza Stark Marked gene: TNF as ready
Mendeliome v0.5266 TNF Zornitza Stark Gene: tnf has been classified as Red List (Low Evidence).
Mendeliome v0.5266 TNF Zornitza Stark Publications for gene: TNF were set to
Mendeliome v0.5265 TNF Zornitza Stark Classified gene: TNF as Red List (low evidence)
Mendeliome v0.5265 TNF Zornitza Stark Gene: tnf has been classified as Red List (Low Evidence).
Mendeliome v0.5254 TNF Seb Lunke reviewed gene: TNF: Rating: RED; Mode of pathogenicity: None; Publications: 26117714; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2365 TNFRSF21 Alison Yeung Marked gene: TNFRSF21 as ready
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2365 TNFRSF21 Alison Yeung Classified gene: TNFRSF21 as Red List (low evidence)
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2361 TNFRSF21 Shannon Cowie gene: TNFRSF21 was added
gene: TNFRSF21 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: TNFRSF21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF21 were set to PMID: 31189563
Phenotypes for gene: TNFRSF21 were set to high myopia
Review for gene: TNFRSF21 was set to RED
gene: TNFRSF21 was marked as current diagnostic
Added comment: Source: JMG review Oct 2019
Large Chinese family, including 12 patients with non-syndromic HM
Immunofluorescence assay indicated that it is strongly expressed in the mouse eye.
Sources: Other
Mendeliome v0.2161 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Mendeliome v0.2161 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Mendeliome v0.2160 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Mendeliome v0.2159 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2158 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Mendeliome v0.2158 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Mendeliome v0.2156 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Mendeliome v0.2155 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2153 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency 16, MIM# 615593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Mendeliome v0.2152 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Mendeliome v0.2151 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2149 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Mendeliome v0.2148 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Mendeliome v0.2147 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Mendeliome v0.2146 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1950 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117; 31501153
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to GREEN
Added comment: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Mendeliome v0.696 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Mendeliome v0.696 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Mendeliome v0.696 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Mendeliome v0.695 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Mendeliome v0.694 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.693 TNFRSF1A Zornitza Stark reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 TNFSF4 Zornitza Stark gene: TNFSF4 was added
gene: TNFSF4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF4 was set to Unknown
Mendeliome v0.0 TNFSF12 Zornitza Stark gene: TNFSF12 was added
gene: TNFSF12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF12 was set to Unknown
Mendeliome v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF11 was set to Unknown
Mendeliome v0.0 TNFRSF4 Zornitza Stark gene: TNFRSF4 was added
gene: TNFRSF4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF4 was set to Unknown
Mendeliome v0.0 TNFRSF1A Zornitza Stark gene: TNFRSF1A was added
gene: TNFRSF1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF1A was set to Unknown
Mendeliome v0.0 TNFRSF13C Zornitza Stark gene: TNFRSF13C was added
gene: TNFRSF13C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF13C was set to Unknown
Mendeliome v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF13B was set to Unknown
Mendeliome v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11B was set to Unknown
Mendeliome v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11A was set to Unknown
Mendeliome v0.0 TNFRSF10B Zornitza Stark gene: TNFRSF10B was added
gene: TNFRSF10B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF10B was set to Unknown
Mendeliome v0.0 TNFAIP3 Zornitza Stark gene: TNFAIP3 was added
gene: TNFAIP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFAIP3 was set to Unknown
Mendeliome v0.0 TNF Zornitza Stark gene: TNF was added
gene: TNF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNF was set to Unknown
Mendeliome v0.0 C1QTNF5 Zornitza Stark gene: C1QTNF5 was added
gene: C1QTNF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QTNF5 was set to Unknown