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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=628",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=626",
"results": [
{
"created": "2023-03-21T12:29:17.647146+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jagn1 has been classified as Green List (High Evidence).",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:29:05.590834+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAGN1 as Green List (high evidence)",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:29:05.557868+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jagn1 has been classified as Green List (High Evidence).",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:28:49.042963+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: JAGN1.\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAGN1 were set to 25129144\nPhenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022\nReview for gene: JAGN1 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nTypically presents in early childhood with severe infections.\r\n\r\nTreatment: G-CSF, BMT.\r\n\r\nNon-genetic confirmatory testing: complete blood count, bone marrow aspiration and biopsy \nSources: Expert list",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2023-03-21T11:02:15.320250+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF13C as ready",
"entity_name": "TNFRSF13C",
"entity_type": "gene"
},
{
"created": "2023-03-21T11:02:15.311989+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf13c has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF13C",
"entity_type": "gene"
},
{
"created": "2023-03-21T11:02:07.343439+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFRSF13C as Red List (low evidence)",
"entity_name": "TNFRSF13C",
"entity_type": "gene"
},
{
"created": "2023-03-21T11:02:07.332175+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf13c has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF13C",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:17:35.159290+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITK as ready",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:17:35.134583+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:17:29.961453+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITK as Green List (high evidence)",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:17:29.948322+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:17:17.056760+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITK was added\ngene: ITK was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: ITK.\nMode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM#\t613011\nReview for gene: ITK was set to GREEN\nAdded comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype. Triggered by EBV infection.\r\n\r\nTwo ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio.\r\n\r\nPatients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load.\r\n\r\nFatal without BMT.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile. \nSources: Expert list",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:14:17.537017+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.\r\n\r\nMost identified through standard NBS. \nSources: Expert list; to: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.\r\n\r\nMost identified through standard NBS.\r\n\r\nTreatment: thyroxine.\r\nSources: Expert list",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:13:03.779972+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRS4 as ready",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:13:03.764967+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irs4 has been classified as Green List (High Evidence).",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:12:57.477142+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRS4 as Green List (high evidence)",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:12:57.469193+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irs4 has been classified as Green List (High Evidence).",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:12:47.096367+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRS4 was added\ngene: IRS4 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: IRS4.\nMode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IRS4 were set to 30061370\nPhenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035\nReview for gene: IRS4 was set to GREEN\nAdded comment: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported.\r\n\r\nMost identified through standard NBS. \nSources: Expert list",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:11:22.653671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRS4 as ready",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:11:22.643731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irs4 has been classified as Green List (High Evidence).",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:11:11.792632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRS4 as Green List (high evidence)",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:11:11.778777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irs4 has been classified as Green List (High Evidence).",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:10:18.559230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRS4 was added\ngene: IRS4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IRS4 were set to 30061370\nPhenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035\nReview for gene: IRS4 was set to GREEN\nAdded comment: Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH). Five unrelated families reported. \nSources: Expert Review",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:08:54.053199+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRS4 as ready",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:08:53.982693+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irs4 has been classified as Green List (High Evidence).",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:08:51.461630+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRS4 were changed from Congenital central hypothyroidism to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T19:08:35.834966+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30061370; Phenotypes: Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IRS4",
"entity_type": "gene"
},
{
"created": "2023-03-20T16:15:33.849461+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2010",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: TNFRSF13C was added\ngene: TNFRSF13C was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF13C were set to PMID: 19666484, PMID: 27250108, PMID: 18025937\nPhenotypes for gene: TNFRSF13C were set to Immunodeficiency, common variable, 4\tMIM#613494\nReview for gene: TNFRSF13C was set to RED\nAdded comment: Amber in our mendeliome \r\nLater childhood or adult onset.\r\n BAFFR deficiency in humans is characterized by very few circulating B cells, very low IgM and IgG serum concentrations but normal or high IgA levels. \nSources: Expert list",
"entity_name": "TNFRSF13C",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:57:04.060877+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL36RN as ready",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:57:04.051643+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il36rn has been classified as Green List (High Evidence).",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:56:59.105858+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL36RN as Green List (high evidence)",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:56:59.078933+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il36rn has been classified as Green List (High Evidence).",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:56:47.502568+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL36RN was added\ngene: IL36RN was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IL36RN.\nMode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL36RN were set to 31286990\nPhenotypes for gene: IL36RN were set to Psoriasis 14, pustular, MIM# 614204\nReview for gene: IL36RN was set to GREEN\nAdded comment: Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein.\r\n\r\nVariable age of onset but predominantly in infancy/early childhood.\r\n\r\nTreatment: ustekinumab, secukinumab, etanercept. \nSources: Expert list",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:50:34.787794+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL2RA as ready",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:50:34.775049+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2ra has been classified as Green List (High Evidence).",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:50:28.080675+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL2RA as Green List (high evidence)",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:50:28.065341+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2ra has been classified as Green List (High Evidence).",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:50:16.811815+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RA was added\ngene: IL2RA was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IL2RA.\nMode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367\nReview for gene: IL2RA was set to GREEN\nAdded comment: Immunodeficiency-41 is a disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation.\r\n\r\nAt least 4 unrelated families reported.\r\n\r\nTreatment: rapamycin, bone marrow transplant.\r\n\r\nConfirmatory non-genetic testing: flow cytometric analysis. \nSources: Expert list",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:47:37.676615+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL21R as ready",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:47:37.651084+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il21r has been classified as Green List (High Evidence).",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:47:32.257497+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL21R as Green List (high evidence)",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:47:32.249636+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il21r has been classified as Green List (High Evidence).",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2023-03-20T14:47:19.152682+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL21R was added\ngene: IL21R was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IL21R.\nMode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL21R were set to Immunodeficiency 56, MIM# 615207\nReview for gene: IL21R was set to GREEN\nAdded comment: Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections.\r\n\r\nMore than 20 individuals reported. Recent series of 13 individuals: the main clinical manifestations were recurrent bacterial (84.6%), fungal (46.2%), and viral (38.5%) infections; cryptosporidiosis-associated cholangitis (46.2%); and asthma (23.1%). Inflammatory skin diseases (15.3%) and recurrent anaphylaxis (7.9%) constitute novel phenotypes of this combined immunodeficiency. Most patients exhibited hypogammaglobulinaemia and reduced proportions of memory B cells, circulating T follicular helper cells, MAIT cells and terminally differentiated NK cells. However, IgE levels were elevated in 50% of IL-21R-deficient patients.\r\n\r\nOnset: infancy/early childhood.\r\n\r\nTreatment: BMT.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels. \nSources: Expert list",
"entity_name": "IL21R",
"entity_type": "gene"
},
{
"created": "2023-03-20T12:26:17.347548+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RN as ready",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T12:26:17.338731+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rn has been classified as Green List (High Evidence).",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T12:26:11.694820+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL1RN as Green List (high evidence)",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T12:26:11.673404+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rn has been classified as Green List (High Evidence).",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T12:25:59.605146+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RN was added\ngene: IL1RN was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IL1RN.\nMode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, MIM# 612852\nReview for gene: IL1RN was set to GREEN\nAdded comment: Severe immunodeficiency, onset in infancy. Multi-system involvement, can be fatal if untreated.\r\n\r\nTreatment: anakinra, etanercept, methotrexate, corticosteroid \nSources: Expert list",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:42.075113+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF1 as ready",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:42.060820+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf1 has been classified as Green List (High Evidence).",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:36.591027+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF1 as Green List (high evidence)",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:36.583334+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf1 has been classified as Green List (High Evidence).",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:26.559404+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IKZF1.\nTag immunological tag was added to gene: IKZF1.",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:14.209780+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF1: Changed rating: GREEN",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:55:06.960272+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF1 was added\ngene: IKZF1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873\nAdded comment: Over 25 individuals from 9 unrelated families with variants in IKZF1 displaying Immunodeficiency; three mouse models Heterozygous missense, frameshift and deletion variants in IKZF1 gene resulting in loss or alteration of a zinc finger DNA contact site cause LoF. Typically presents with recurrent bacterial respiratory infections, hypogammaglobulinaemia and low Ig levels; variable age of onset.\r\n\r\nPMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.\r\n\r\nIncluded primarily for LoF phenotype.\r\n\r\nTreatment: IVIG and BMT.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels \nSources: Expert list",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:51:49.246369+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.\r\n\r\nTreatment: bone marrow transplant. \nSources: Expert list; to: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.\r\n\r\nTreatment: bone marrow transplant. \r\n\r\nLimited evidence for mono-allelic disease.\r\nSources: Expert list",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:49:35.935013+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKB as ready",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:49:35.923276+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkb has been classified as Green List (High Evidence).",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:49:30.847982+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKBKB as Green List (high evidence)",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:49:30.834422+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkb has been classified as Green List (High Evidence).",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:45:42.558925+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKB was added\ngene: IKBKB was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IKBKB.\nMode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IKBKB were set to Immunodeficiency 15B, MIM#\t615592\nReview for gene: IKBKB was set to GREEN\nAdded comment: Primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinaemia with relatively normal numbers of B and T cells.\r\n\r\nTreatment: bone marrow transplant. \nSources: Expert list",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:40:28.078150+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNGR2 as ready",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:40:28.069881+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifngr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:40:23.525122+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNGR2 as Amber List (moderate evidence)",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:40:23.517125+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifngr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-03-20T10:39:55.471152+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFNGR2 was added\ngene: IFNGR2 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IFNGR2.\nMode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, MIM# 614889\nReview for gene: IFNGR2 was set to AMBER\nAdded comment: At least 5 unrelated families reported.\r\n\r\nCommonest trigger is BCG vaccination, which is not part of the routine schedule in Australia, therefore exclude.\r\n\r\nTreatment: BMT; avoidance of BCG. \nSources: Expert list",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:59:35.456258+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNGR1 as ready",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:59:35.442075+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifngr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:59:29.330846+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNGR1 as Amber List (moderate evidence)",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:59:29.313145+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifngr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:59:20.349577+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IFNGR1.\nTag immunological tag was added to gene: IFNGR1.",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:59:09.493057+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFNGR1 was added\ngene: IFNGR1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: IFNGR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978\nReview for gene: IFNGR1 was set to AMBER\nAdded comment: Variable age of onset. Most common precipitant is BCG vaccination, which is not part of the routine schedule in Australia, therefore exclude.\r\n\r\nTreatment: BMT; avoidance of BCG. \nSources: Expert list",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:54:31.818482+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFITM5 as ready",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:54:31.808885+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifitm5 has been classified as Green List (High Evidence).",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:54:26.486184+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFITM5 as Green List (high evidence)",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:54:26.472370+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifitm5 has been classified as Green List (High Evidence).",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:54:14.770334+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFITM5 was added\ngene: IFITM5 was added to Baby Screen+ newborn screening. Sources: Expert list\n5'UTR, treatable, skeletal tags were added to gene: IFITM5.\nMode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFITM5 were set to 22863190; 22863195; 32383316; 24519609\nPhenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V MIM#610967\nReview for gene: IFITM5 was set to GREEN\nAdded comment: A recurrent c.-14C>T variant has been reported in many patients with type V OI. It introduces an alternative in-frame start codon upstream that is stronger than the reference start codon in transfected HEK cells (PMIDs: 22863190, 22863195). However, the effect of mutant protein (5 amino acids longer) remains unknown but neomorphic mechanism is a widely accepted hypothesis (PMIDs: 25251575, 32383316).\r\n\r\nVariable severity, including within families. However, severe perinatal presentations reported.\r\n\r\nTreatment: bisphosphanates.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert list",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:50:07.288148+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICOS as ready",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:50:07.280625+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icos has been classified as Green List (High Evidence).",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:50:02.059311+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICOS as Green List (high evidence)",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:50:01.991585+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icos has been classified as Green List (High Evidence).",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:49:50.407485+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICOS was added\ngene: ICOS was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: ICOS.\nMode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1 MIM# 607594\nReview for gene: ICOS was set to GREEN\nAdded comment: 15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.\r\n\r\nHomozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.\r\n\r\nPatients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA.\r\n\r\nCongenital onset.\r\n\r\nTreatment: replacement immunoglobulin treatment, bone marrow transplant.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels. \nSources: Expert list",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:47:04.987551+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IARS as ready",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:47:04.943220+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Amber List (Moderate Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:46:59.395945+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IARS as Amber List (moderate evidence)",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:46:59.383659+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Amber List (Moderate Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:46:48.683116+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IARS.\nTag metabolic tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2023-03-20T09:46:30.176782+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 27426735; 34194004\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093\nReview for gene: IARS was set to AMBER\nAdded comment: Established gene-disease association.\r\n\r\nCongenital, multi-system metabolic disorder.\r\n\r\nN=1 study of Isoleucine supplementation and protein fortification (2.5mg/kg/day, during illness 3.5 g/kg/day) with some clinical improvement. \nSources: Expert list",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:42:22.265258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:41:48.570732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HECTD4: Changed phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:41:31.572630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HECTD4 as ready",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:41:31.565388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Green List (High Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:41:23.521678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:41:04.093000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:40:42.381532+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-19T18:40:08.721533+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HECTD4: Changed phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2023-03-17T07:38:55.710219+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "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",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-03-17T07:38:23.779396+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNFRSF9: Changed phenotypes: Immunodeficiency 109 with lymphoproliferation, MIM# 620282, EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2023-03-17T07:38:00.464411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "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",
"entity_name": "TNFRSF9",
"entity_type": "gene"
}
]
}