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{
"count": 149599,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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"results": [
{
"created": "2020-04-02T17:30:53.158785Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.44",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MPO were set to 9354683; 15108282; 9637725",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2020-04-02T16:15:53.733045Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Marked gene: ACE as ready",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2020-04-02T16:15:53.717657Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: ace has been classified as Red List (Low Evidence).",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2020-04-02T16:11:52.061331Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Autosomal (AD) inheritance listed in OMIM for MIM:614470.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T16:11:52.032640Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRAS was changed from Unknown to Unknown",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T16:11:02.936817Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.42",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on gene: KRAS",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T16:08:51.456135Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.42",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from RAS associated lymphoproliferative disease, 614470; RALD to RALD; RAS-associated autoimmune leukoproliferative disorder, 614470",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:10:39.384469Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.41",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: IRF8 as Green List (high evidence)",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:10:39.376347Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.41",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: irf8 has been classified as Green List (High Evidence).",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:50.955006Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to KDM6A.\nAdded phenotypes Combined immunodeficiencies with associated or syndromic features; Kabuki Syndrome 2 due to KDM6A deficiency; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present for gene: KDM6A\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:50.550027Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SH3KBP1.\nAdded phenotypes Predominantly Antibody Deficiencies; Severe bacterial infections; SH3KBP1 (CIN85) deficiency; Immunodeficiency 61, 300310 for gene: SH3KBP1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:50.216050Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IRAK1.\nAdded phenotypes Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1; Defects in Intrinsic and Innate Immunity for gene: IRAK1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:49.452058Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added phenotypes Herpetic encephalitis (HSE); Herpes simplex virus 1 encephalitis; Defects in Intrinsic and Innate Immunity; Defects in intrinsic and innate immunity; {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849; Herpes simplex encephalitis, susceptibility to, 3 for gene: TRAF3",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:49.064474Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TOP2B.\nAdded phenotypes Recurrent infections, facial dysmorphism, limb anomalies; Hoffman syndrome/TOP2B deficiency; Predominantly Antibody Deficiencies for gene: TOP2B\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:48.735961Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNFSF12.\nAdded phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia; Pneumonia, bacterial infections, warts, thrombocytopenia for gene: TNFSF12\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TNFSF12",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:48.331519Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to THBD.\nAdded phenotypes Complement Deficiencies; Thrombomodulin deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 6; Atypical hemolytic-uremic syndrome for gene: THBD\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:47.960300Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TGFBR2.\nAdded phenotypes Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms; Combined immunodeficiencies with associated or syndromic features; ALPS-FAS for gene: TGFBR2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:47.618543Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TGFBR1.\nAdded phenotypes Loeys-Dietz syndrome 1, 609192; Loeys Dietz syndrome due to TGFBR1 deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms for gene: TGFBR1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:47.273617Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SRP54.\nAdded phenotypes Schwachman Diamond features; Congenital defects of phagocyte number or function for gene: SRP54\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:46.948079Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SH3BP2.\nAdded phenotypes Other autoinflammatory diseases with known genetic defect; Autoinflammatory Disorders; Cherubism 118400; Bone degeneration in jaws for gene: SH3BP2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:46.222176Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SEMA3E.\nAdded phenotypes CHARGE syndrome; immune-mediated cerebellar ataxia; Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs; Charge syndrome 214800; Combined immunodeficiencies with associated or syndromic features for gene: SEMA3E\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:45.844993Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SEC61A1.\nAdded phenotypes Severe recurrent respiratory tract infections; Predominantly Antibody Deficiencies; Hyperuricemic nephropathy, familial juvenile, 4, 617056; SEC61A1 deficiency for gene: SEC61A1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:45.468931Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RELA.\nAdded phenotypes RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Mucocutaneous ulceration, chronic, 618287; Immunodeficiencies affecting cellular and humoral immunity for gene: RELA\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:45.107166Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RANBP2.\nAdded phenotypes Fever induces acute encephalopathy; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: RANBP2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:44.465900Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to PSEN1.\nAdded phenotypes Hidradenitis suppurative with cutaneous hyperpigmentation; Acne inversa, familial, 3 613737; Defects in Intrinsic and Innate Immunity for gene: PSEN1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:43.906322Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to OAS1.\nAdded phenotypes OAS1 GOF; Autoinflammatory Disorders; Pulmonary alveolar proteinosis, skin rash for gene: OAS1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:43.161286Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to NFE2L2.\nAdded phenotypes Recurrent respiratory and skin infections, growth retardation, , developmental delay; increased expression of stress response genes; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; white matter cerebral lesions, increased level of homocysteine; Combined immunodeficiencies with associated or syndromic features; NFE2L2 GOF for gene: NFE2L2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:42.822697Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to NFAT5.\nAdded phenotypes NFAT5 haploinsufficieny; IBD, recurrent sinopulmonary infections; Diseases of Immune Dysregulation for gene: NFAT5\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:42.456189Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to KMT2D.\nAdded phenotypes Kabuki syndrome 1, 147920; Combined immunodeficiencies with associated or syndromic features; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present for gene: KMT2D\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:42.014762Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to KMT2A.\nAdded phenotypes Wiedemann-Steiner syndrome with Congenital immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Unclassified antibody deficiency; Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability for gene: KMT2A\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:41.649945Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to JAK1.\nAdded phenotypes Hypereosinophilic syndrome; HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections; Diseases of Immune Dysregulation; Susceptibility to mycobacteria and viruses, urothelial carcinoma; Defects in Intrinsic and Innate Immunity; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:41.262826Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IRF2BP2.\nAdded phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID for gene: IRF2BP2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:40.912240Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ERBIN.\nAdded phenotypes ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some for gene: ERBIN\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:40.549454Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to BCL11B.\nAdded phenotypes Combined immunodeficiencies with associated or syndromic features; leaky SCID; ?Immunodeficiency 49, 617237; Immunodeficiencies affecting cellular and humoral immunity; Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits for gene: BCL11B\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:39.822840Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to APOL1.\nAdded phenotypes Defects in Intrinsic and Innate Immunity; Trypanosomiasis, susceptibility to; Trypanosomias; Trypanosomiasis for gene: APOL1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:39.459119Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACTB.\nAdded phenotypes Congenital defects of phagocyte number or function; neutrophil dysfunction; Mental retardation, short stature; Actin beta deficiency (ACTB); Phagocytic disorder; Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia; Baraitser-Winter syndrome 1, 243310 for gene: ACTB\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:39.049500Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNFRSF13B.\nAdded phenotypes IgA with IgG subclass deficiency; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 2, 240500; Variable clinical expression; Isolated IgG subclass deficiency; IGAD; Selective IgA deficiency; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Immunoglobulin A deficiency 2, 609529; CVID for gene: TNFRSF13B\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:38.710634Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to CFHR2.\nAdded phenotypes Complement Deficiencies; Age related macular degeneration; Atypical hemolytic uremic syndrome susceptibility; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:38.354331Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZNF341.\nAdded phenotypes Hyper-IgE syndrome; Combined immunodeficiencies with associated or syndromic features; Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth for gene: ZNF341\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ZNF341",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:38.008366Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to WRAP53.\nAdded phenotypes Bone marrow failure; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; Combined immunodeficiencies with associated or syndromic features; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; microcephaly, neurodevelopmental delay for gene: WRAP53\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:37.271423Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRIM22.\nAdded phenotypes TRIM22; Granulomatous colitis; Autoinflammatory Disorders; Diseases of Immune Dysregulation for gene: TRIM22\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TRIM22",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:36.912272Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRAF3IP2.\nAdded phenotypes Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC); Defects in intrinsic and innate immunity; Candidiasis, familial, 8 615527; CMC, blepharitis, folliculitis and macroglossia for gene: TRAF3IP2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:36.537080Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNFSF11.\nAdded phenotypes Osteopetrosis with severe growth retardation; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TNFSF11\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:36.066925Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNFRSF9.\nAdded phenotypes EBV lymphoproliferation, B-cell lymphoma; CD137 deficiency (41BB) for gene: TNFRSF9\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:35.738245Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNFRSF4.\nAdded phenotypes Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency; Immunodeficiencies affecting cellular and humoral immunity; Impaired immunity to HHV8, Kaposis sarcoma; Combined immunodeficiency for gene: TNFRSF4\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TNFRSF4",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:35.349823Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TIRAP.\nAdded phenotypes Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TIRAP\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TIRAP",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:34.910311Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TGFB1.\nAdded phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy; TGFB1 deficiency; Diseases of Immune Dysregulation for gene: TGFB1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:34.534093Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TFRC.\nAdded phenotypes Recurrent infections, neutropenia, thrombocytopenia; Recurrent infections, thrombocytopenia; Immunodeficiencies affecting cellular and humoral immunity for gene: TFRC\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:33.863386Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TCIRG1.\nAdded phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia; Defects in Intrinsic and Innate Immunity for gene: TCIRG1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:33.539886Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to STN1.\nAdded phenotypes Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres for gene: STN1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:33.151218Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SNX10.\nAdded phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with visual impairment; Defects in Intrinsic and Innate Immunity for gene: SNX10\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:32.814240Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMARCD2.\nAdded phenotypes Congenital defects of phagocyte number or function; Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia for gene: SMARCD2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:32.463962Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC7A7.\nAdded phenotypes Lysinuric protein intolerance, 222700; Severe bacterial infections; Lysinuric protein intolerance SLC7A7 deficiency; Predominantly Antibody Deficiencies for gene: SLC7A7\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:32.128750Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC39A7.\nAdded phenotypes Agammaglobulinemia; B cell deficiency; Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies for gene: SLC39A7\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:31.462478Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RNU4ATAC.\nAdded phenotypes Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly; Combined immunodeficiencies with associated or syndromic features; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature for gene: RNU4ATAC\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:31.060896Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RNF31.\nAdded phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency; Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis; autoinflammation and combined immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia for gene: RNF31\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RNF31",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:30.712142Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to RELB.\nAdded phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity; Recurrent infections; ?Immunodeficiency 53, 617585 for gene: RELB\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:30.344551Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to REL.\nAdded phenotypes Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity; c-Rel deficiency for gene: REL\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:29.966921Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to PSMG2.\nAdded phenotypes Panniculitis, lipodystrophy, autoimmune hemolytic anemia; CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy); Autoinflammatory Disorders for gene: PSMG2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:29.640327Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to POLE2.\nAdded phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features; Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism for gene: POLE2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:29.223070Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to POLD2.\nAdded phenotypes Immunodeficiencies affecting cellular and humoral immunity; Polymerase d 2 deficiency; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability for gene: POLD2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:28.863615Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to POLD1.\nAdded phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability; Polymerase d 1 deficiency for gene: POLD1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:28.210541Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to PLEKHM1.\nAdded phenotypes Osteopetrosis; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: PLEKHM1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:27.826787Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to OSTM1.\nAdded phenotypes Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features for gene: OSTM1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:27.459805Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to NBAS.\nAdded phenotypes Infantile liver failure syndrome 2, 616483; Defects in intrinsic and innate immunity; Fever induced liver failure; Defects in Intrinsic and Innate Immunity; Fever induces liver failure for gene: NBAS\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:27.059845Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to MSH6.\nAdded phenotypes Colorectal cancer, hereditary nonpolyposis, type 5 614350; Endometrial cancer, familial 608089; Predominantly Antibody Deficiencies; Family or personal history of cancer; Mismatch repair cancer syndrome 276300 for gene: MSH6\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:26.712473Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to MS4A1.\nAdded phenotypes Predominantly Antibody Deficiencies; Recurrent infections; Common variable immunodeficiency disorders (CVID); Immunodeficiency, common variable, 5 613495 for gene: MS4A1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:26.343091Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to MKL1.\nAdded phenotypes Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:25.661514Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to MASP2.\nAdded phenotypes Complement Deficiencies; MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity for gene: MASP2\nPublications for gene MASP2 were updated from 24658431; 32086639; 32048120; 19405982 to 24658431; 32086639; 32048120; 19405982\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:25.318922Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to LIG1.\nAdded phenotypes DNA ligase I deficiency; Combined immunodeficiencies with associated or syndromic features; DNA-ligase 1 ATP-dependent deficiency (LIG1); Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity for gene: LIG1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:24.935531Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IL6ST.\nAdded phenotypes Eczema; Abnormal acute-phase responses; Recurrent infections; Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis; Eosinophilia; Elevated IgE; Combined immunodeficiencies with associated or syndromic features for gene: IL6ST\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:24.555899Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IL6R.\nAdded phenotypes Eczema; Recurrent infections; Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels; Hyper-IgE; Combined immunodeficiencies with associated or syndromic features for gene: IL6R\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:24.208105Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IL2RB.\nAdded phenotypes Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495; CD122 deficiency for gene: IL2RB\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:23.848140Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to IFNAR2.\nAdded phenotypes ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity for gene: IFNAR2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:23.508178Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ICOSLG.\nAdded phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent bacterial and viral infections for gene: ICOSLG\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:23.126845Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to HYOU1.\nAdded phenotypes Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function for gene: HYOU1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:22.442606Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to HMOX1.\nAdded phenotypes amyloidosis; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity for gene: HMOX1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:22.026722Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to HAVCR2.\nAdded phenotypes T-cell lymphoma, subcutaneous panniculitis-like, 618398; Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; Autoinflammatory Disorders for gene: HAVCR2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HAVCR2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:21.660396Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FERMT1.\nAdded phenotypes FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Kindler syndrome, 173650; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling for gene: FERMT1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:21.314645Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FCN3.\nAdded phenotypes Respiratory infections, abscesses; Complement Deficiencies; Ficolin3 deficiency; Immunodeficiency due to ficolin 3 deficiency, 613860 for gene: FCN3\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FCN3",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:20.940562Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FCHO1.\nAdded phenotypes Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity for gene: FCHO1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:20.450295Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCM.\nAdded phenotypes Fanconi Anemia Type M; Bone marrow failure; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage for gene: FANCM\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:19.816630Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCI.\nAdded phenotypes Fanconi anemia, complementation group I, 609053; Bone marrow failure; Fanconi Anemia Type I; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage for gene: FANCI\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:19.466693Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCF.\nAdded phenotypes Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi anemia, complementation group F, 603467; Bone marrow failure; Fanconi Anemia Type F for gene: FANCF\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:19.065472Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to FAAP24.\nAdded phenotypes EBV infection-driven lymphoproliferative disease; Diseases of Immune Dysregulation for gene: FAAP24\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:18.638417Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ERCC4.\nAdded phenotypes Fanconi anemia, complementation group Q, 615272; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type Q; Bone marrow failure for gene: ERCC4\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:18.312104Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to DEF6.\nAdded phenotypes DEF6 deficiency; Diseases of Immune Dysregulation; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections for gene: DEF6\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:17.950212Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to DBR1.\nAdded phenotypes DBR1 deficiency; HSE of the brainstem. Other viral infections of the brainstem; Defects in intrinsic and innate immunity for gene: DBR1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:17.614395Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to CLCN7.\nAdded phenotypes Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:17.223223Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to C8G.\nAdded phenotypes Complement Deficiencies; Complement factor 8 defect; Complement component 8 deficiency; Disseminated neisserial infections for gene: C8G\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:16.550447Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to C17orf62.\nAdded phenotypes Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function for gene: C17orf62\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:16.159544Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to BRCA2.\nAdded phenotypes Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type D1; Bone marrow failure for gene: BRCA2\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:15.816117Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to BRCA1.\nAdded phenotypes Fanconi Anemia Type S; Fanconi anemia, complementation group S, 617883; normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure for gene: BRCA1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:15.464837Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARHGEF1.\nAdded phenotypes Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency; Predominantly Antibody Deficiencies for gene: ARHGEF1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:15.110639Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP3D1.\nAdded phenotypes neutropenia; Immunodeficient HPS; seizures; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; neuordevelopmental delay; albinism; ?Hermansky-Pudlak syndrome 10, 617050; Hermansky-Pudlak syndrome; Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay; Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay; HSP10 for gene: AP3D1\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:14.724763Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALPI.\nAdded phenotypes Inflammatory bowel disease; ALPI deficiency; Autoinflammatory Disorders for gene: ALPI\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:14.020796Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TINF2.\nAdded phenotypes microcephaly, neurodevelopmental delay exudative retinopathy; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay for gene: TINF2\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:13.653853Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TERC.\nAdded phenotypes Dyskeratosis congenita; Bone marrow failure; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; Dyskeratosis congenita 1; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome; microcephaly, neurodevelopmental delay for gene: TERC\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:13.314591Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to TBX1.\nAdded phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; DiGeorge syndrome 188400; Di George syndrome; T-B+ SCID; Severe combined immunodeficiency (SCID); Combined immunodeficiencies with associated or syndromic features for gene: TBX1\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2020-04-02T15:06:12.926382Z",
"panel_name": "Viral susceptibility",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SAMD9L.\nAdded phenotypes Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction; Combined immunodeficiencies with associated or syndromic features; MDS, neurological features; Bone marrow failure for gene: SAMD9L\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SAMD9L",
"entity_type": "gene"
}
]
}