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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=627",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=625",
"results": [
{
"created": "2023-03-22T16:13:18.640422+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Green List (High Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:13:07.266088+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PLS3.\nTag skeletal tag was added to gene: PLS3.",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:12:54.492821+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLS3 was added\ngene: PLS3 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043\nPhenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910\nReview for gene: PLS3 was set to GREEN\nAdded comment: Females mildly affected: exclude from screening.\r\n\r\nPresentation in males similar to OI, though also variable in severity.\r\n\r\nTreatment: safe handling techniques, bisphosphonates, pamidronate, zoledronic acid, teriparatide, denosumab, alendronate\r\n\r\nNon-genetic confirmatory testing: skeletal survey \nSources: Expert list",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:43:25.644202+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTULIN as ready",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:43:25.636167+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:43:18.857560+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTULIN as Green List (high evidence)",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:43:18.838947+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:43:06.897871+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTULIN was added\ngene: OTULIN was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: OTULIN.\nMode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099\nReview for gene: OTULIN was set to GREEN\nAdded comment: Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection.\r\n\r\nOnset is generally in infancy.\r\n\r\nTreatment: inflixiimab, anakinra, etanercept, corticosteroids.\r\n\r\nNon-genetic confirmatory testing: no. \nSources: Expert list",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:40:00.693815+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS1 as ready",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:40:00.680888+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:39:54.702569+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS1 as Green List (high evidence)",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:39:54.694714+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:14:14.630387+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAS1 was added\ngene: OAS1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: OAS1.\nMode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OAS1 were set to 34145065; 29455859\nPhenotypes for gene: OAS1 were set to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042\nReview for gene: OAS1 was set to GREEN\nAdded comment: Immunodeficiency-100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood.\r\n\r\nTreatment: IVIG; BMT is curative.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels. \nSources: Expert list",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:04:13.022621+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRC4 as ready",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:04:13.014998+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:04:10.578090+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRC4 were changed from Infantile onset enterocolitis and autoinflammation to Autoinflammation with infantile enterocolitis, MIM# 616050",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:03:36.877178+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRC4 were set to PMID: 25217960",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:02:53.875547+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRC4: Changed publications: 25217959, 25217960",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:02:39.504982+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRC4: Changed publications: 25217959",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:01:39.989654+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRC4 as Amber List (moderate evidence)",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:01:39.979949+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:01:09.556130+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25217960; Phenotypes: Autoinflammation with infantile enterocolitis 616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:59:06.587136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5192",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAB2 were set to 35971781\nPhenotypes for gene: TAB2 were set to Congenital heart defects, multiple types, 2 MONDO:0014000\nReview for gene: TAB2 was set to GREEN\nAdded comment: PMID: 35971781 - expansion of the phenotype, 14 patients with TAB2 variants 6 have dev delay and 4 are also listed as having ID along with other phenotype features associated with this gene.\r\n\r\nNote- there is a previous review of this paper in the mendeilome as amber \nSources: Literature",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:55:00.894433+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKBIA as ready",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:55:00.884985+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkbia has been classified as Green List (High Evidence).",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:54:56.369197+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFKBIA as Green List (high evidence)",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:54:56.359560+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkbia has been classified as Green List (High Evidence).",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:54:35.730347+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFKBIA was added\ngene: NFKBIA was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: NFKBIA.\nMode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM# 612132\nReview for gene: NFKBIA was set to GREEN\nAdded comment: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).\r\n\r\nFunctional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity.\r\n\r\nThe majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).\r\n\r\nOnset is generally in infancy.\r\n\r\nTreatment: BMT.\r\n\r\nNon-genetic confirmatory testing: no \nSources: Expert list",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:12:31.599152+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAXE as ready",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:12:31.582015+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naxe has been classified as Red List (Low Evidence).",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:12:22.113219+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAXE was added\ngene: NAXE was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, metabolic tags were added to gene: NAXE.\nMode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXE were set to 27122014; 27616477; 31758406\nPhenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186\nReview for gene: NAXE was set to RED\nAdded comment: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.\r\n\r\nTreatment: niacin\r\n\r\nHowever, single case reported. Treatment not established. \nSources: Expert list",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:09:00.588504+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAXD as ready",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:09:00.574304+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naxd has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:08:53.364488+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAXD as Amber List (moderate evidence)",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:08:53.338043+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naxd has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2023-03-22T13:08:40.030514+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAXD was added\ngene: NAXD was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, metabolic tags were added to gene: NAXD.\nMode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXD were set to 30576410; 31755961; 32462209; 35231119\nPhenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321\nReview for gene: NAXD was set to AMBER\nAdded comment: Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.\r\n\r\nTreatment: niacin\r\n\r\nHowever, only two cases reported. Treatment not established. \nSources: Expert list",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:21:44.909784+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYD88 as ready",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:21:44.898343+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myd88 has been classified as Green List (High Evidence).",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:21:39.324044+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYD88 as Green List (high evidence)",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:21:39.316273+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myd88 has been classified as Green List (High Evidence).",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:21:28.295985+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYD88 was added\ngene: MYD88 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: MYD88.\nMode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYD88 were set to 18669862; 20538326; 31301515\nPhenotypes for gene: MYD88 were set to Immunodeficiency 68, MIM# 612260\nReview for gene: MYD88 was set to GREEN\nAdded comment: Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed.\r\n\r\nAt least 7 families and a mouse model.\r\n\r\nTreatment: Prophylactic antibiotic treatment, pneumococcal, meningococcal, haemophilus influenzae vaccines, and immunoglobulin replacement.\r\n\r\nNon-genetic confirmatory testing: toll-like receptor function \nSources: Expert list",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:16:33.737283+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFS as ready",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:16:33.729147+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Red List (Low Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:16:25.034093+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFS was added\ngene: MTHFS was added to Baby Screen+ newborn screening. Sources: Expert list\nmetabolic tags were added to gene: MTHFS.\nMode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFS were set to 30031689; 31844630; 22303332\nPhenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367\nReview for gene: MTHFS was set to RED\nAdded comment: Established gene-disease association.\r\n\r\nOnset in infancy. Severe disorder.\r\n\r\nTreatment: single report of some improvement with combination of oral L-5- methyltetrahydrofolate and intramuscular methylcobalamin \nSources: Expert list",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:02:49.733064+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFD1 as ready",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:02:49.717762+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfd1 has been classified as Green List (High Evidence).",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:02:43.495262+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFD1 as Green List (high evidence)",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:02:43.482860+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfd1 has been classified as Green List (High Evidence).",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2023-03-22T11:02:31.160038+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFD1 was added\ngene: MTHFD1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological, haematological tags were added to gene: MTHFD1.\nMode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFD1 were set to 32414565; 19033438\nPhenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780\nReview for gene: MTHFD1 was set to GREEN\nAdded comment: 8 individuals from 4 unrelated families have been reported; multiple mouse models\r\n\r\n7 individuals were Compound heterozygous (nonsense & missense) and 1 was homozygous (missense) for MTHFD1 variants often resulting in alteration of highly conserved residues in binding-sites.\r\n\r\nIndividuals typically present with megaloblastic anaemia, atypical hemolytic uremic syndrome, hyperhomocysteinaemia, microangiopathy, recurrent infections and autoimmune diseases.\r\n\r\nTreatment: hydroxocobalamin, folinic acid and betaine\r\n\r\nNon-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, complete blood count with MCV, plasma homocysteine and methylmalonic acid levels, CSF \nSources: Expert list",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2023-03-22T10:38:44.499373+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder, MONDO:0700092, UBE3C-related to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2023-03-22T10:38:11.123253+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": "edited their review of gene: UBE3C: Changed phenotypes: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2023-03-22T10:37:24.823351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder, MONDO:0700092, UBE3C-related to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2023-03-22T10:37:00.670983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE3C: Changed phenotypes: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2023-03-22T10:36:45.242408+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder, MONDO:0700092, UBE3C-related to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2023-03-22T10:36:10.967490+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE3C: Changed phenotypes: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:43:21.862182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MS4A1 were set to 20038800",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:42:52.923540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MS4A1 as Amber List (moderate evidence)",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:42:52.911961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:40:37.027393+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNX1 as ready",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:40:37.019103+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Green List (High Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:40:26.852898+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MNX1 as Green List (high evidence)",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:40:26.841035+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Green List (High Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:40:14.331534+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNX1 was added\ngene: MNX1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: MNX1.\nMode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MNX1 were set to 36586106\nPhenotypes for gene: MNX1 were set to Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related\nReview for gene: MNX1 was set to GREEN\nAdded comment: Three unrelated families reported. Presentation is in newborn period.\r\n\r\nTreatment: insulin.\r\n\r\nNon-genetic confirmatory testing: glucose tolerance test, hemoglobin A1C, insulin level, glucose level \nSources: Expert list",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:37:46.245289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MNX1 were changed from Currarino syndrome, MIM# 176450 to Currarino syndrome, MIM# 176450; Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:37:23.298160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MNX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:36:06.397826+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNX1 as ready",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:36:06.385563+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mnx1 has been classified as Green List (High Evidence).",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:35:53.974447+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MNX1 were changed from to Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:35:41.013887+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36586106; Phenotypes: Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:34:36.075626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36586106; Phenotypes: Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:03:02.345031+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MALT1 as ready",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:03:02.334480+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: malt1 has been classified as Green List (High Evidence).",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:02:54.647697+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MALT1 as Green List (high evidence)",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:02:54.635279+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: malt1 has been classified as Green List (High Evidence).",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T18:02:42.059891+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MALT1 was added\ngene: MALT1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: MALT1.\nMode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MALT1 were set to Immunodeficiency 12 MIM# 615468\nReview for gene: MALT1 was set to GREEN\nAdded comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency.\r\n\r\nVariants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains.\r\n\r\nAll individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation.\r\n\r\nTreatment: prophylactic antibiotics, IVIG, BMT.\r\n\r\nNon-genetic confirmatory testing: no \nSources: Expert list",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:46:25.766991+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RIPK4 as ready",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:46:25.755912+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:46:14.699695+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RIPK4 as Green List (high evidence)",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:46:14.691117+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:44:11.931137+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGT1 as ready",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:44:11.916252+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:44:05.794523+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAGT1 as Green List (high evidence)",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:44:05.787215+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T17:43:53.557285+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGT1 was added\ngene: MAGT1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: MAGT1.\nMode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAGT1 were set to 31036665; 31714901\nPhenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)\nReview for gene: MAGT1 was set to GREEN\nAdded comment: XMEN is an X-linked recessive immunodeficiency characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders.\r\n\r\nVariable age of onset, including in early childhood.\r\n\r\nTreatment: Mg supplementation; IVIG, BMT.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, Carbohydrate deficient glycosylation profile \nSources: Expert list",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2023-03-21T13:11:21.774783+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRBA as ready",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2023-03-21T13:11:21.750931+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrba has been classified as Green List (High Evidence).",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2023-03-21T13:11:16.292657+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRBA as Green List (high evidence)",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2023-03-21T13:11:16.275141+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrba has been classified as Green List (High Evidence).",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2023-03-21T13:11:05.143222+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRBA was added\ngene: LRBA was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: LRBA.\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRBA were set to 22608502; 22721650; 25468195; 26206937; 33155142; 31887391\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700\nReview for gene: LRBA was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nGenerally childhood onset with recurrent infections and autoimmune phenomena.\r\n\r\nTreatment: abatacept, BMT.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels. \nSources: Expert list",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:57:23.238494+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG1 as ready",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:57:23.226748+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:57:17.258644+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG1 as Green List (high evidence)",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:57:17.246226+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:57:05.663246+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG1 was added\ngene: LIG1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: LIG1.\nMode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG1 were set to 30395541\nPhenotypes for gene: LIG1 were set to Immunodeficiency 96, MIM#\t619774\nReview for gene: LIG1 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset is generally in early childhood.\r\n\r\nPresents with recurrent severe infections.\r\n\r\nTreatment: IVIG, BMT.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, complete blood count \nSources: Expert list",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:49:27.464265+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEP as ready",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:49:27.454145+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lep has been classified as Green List (High Evidence).",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:49:19.966438+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LEP as Green List (high evidence)",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:49:19.958141+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lep has been classified as Green List (High Evidence).",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:49:03.026362+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEP was added\ngene: LEP was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: LEP.\nMode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LEP were set to 26567097\nPhenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency (MIM#614962)\nReview for gene: LEP was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset is in infancy/early childhood. Similar disorders included.\r\n\r\nTreatment: metreleptin.\r\n\r\nNon-genetic confirmatory testing: leptin level. \nSources: Expert list",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2023-03-21T12:29:17.677476+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAGN1 as ready",
"entity_name": "JAGN1",
"entity_type": "gene"
}
]
}