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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=542",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=540",
"results": [
{
"created": "2023-10-04T14:00:23.060266+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomc has been classified as Green List (High Evidence).",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2023-10-04T14:00:15.455522+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMC were changed from Proopiomelanocortin deficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2023-10-04T14:00:00.820869+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMC as Green List (high evidence)",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2023-10-04T14:00:00.804701+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomc has been classified as Green List (High Evidence).",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:59:43.815893+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:57:16.746310+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLE as ready",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:57:16.734079+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:57:11.953624+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLE as Green List (high evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:57:11.945367+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:57:00.807417+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: POLE.\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLE were set to IMAGE-I syndrome, MIM#\t618336\nReview for gene: POLE was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nMulti-system disorder comprising GH and adrenal hypoplasia.\r\n\r\nTreatment: hydrocortisone\r\n\r\nnon-genetic confirmatory testing: hormone levels \nSources: Expert list",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:53:08.214770+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCF4 as ready",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:53:08.203602+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf4 has been classified as Green List (High Evidence).",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:53:04.484125+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCF4 were changed from Chronic granulomatous disease 3, autosomal recessive, MIM#\t613960; Chronic granulomatous disease to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:52:47.391866+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCF4 as Green List (high evidence)",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:52:47.382239+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf4 has been classified as Green List (High Evidence).",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:52:37.923828+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: NCF4.\nTag immunological tag was added to gene: NCF4.",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:52:27.052512+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:50:15.665270+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPL as ready",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:50:15.650521+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpl has been classified as Green List (High Evidence).",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:48:04.041103+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LPL as Green List (high evidence)",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:48:04.029616+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpl has been classified as Green List (High Evidence).",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:47:51.781166+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPL was added\ngene: LPL was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, metabolic tags were added to gene: LPL.\nMode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPL were set to Lipoprotein lipase deficiency, MIM# 238600\nReview for gene: LPL was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nBi-allelic disease is severe and presents in infancy.\r\n\r\nTreatment: volanesorsen, dietary fat restriction, lomitapide\r\n\r\nNon-genetic confirmatory testing: LPL activity \nSources: Expert list",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:45:06.948905+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAT as ready",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:45:06.938600+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:45:01.489388+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAT as Green List (high evidence)",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:45:01.449705+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:44:50.018313+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAT was added\ngene: LAT was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: LAT.\nMode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514\nReview for gene: LAT was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nSCID-like presentation.\r\n\r\nTreatment: BMT\r\n\r\nNon-genetic confirmatory testing: yes \nSources: Expert list",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:41:52.285524+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL3 as ready",
"entity_name": "KLHL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:41:52.275887+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl3 has been classified as Green List (High Evidence).",
"entity_name": "KLHL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:41:41.062784+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL3 as Green List (high evidence)",
"entity_name": "KLHL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:41:41.051033+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl3 has been classified as Green List (High Evidence).",
"entity_name": "KLHL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:41:30.750410+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL3 was added\ngene: KLHL3 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: KLHL3.\nMode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495\nReview for gene: KLHL3 was set to GREEN\nAdded comment: Established gene disease association.\r\n\r\nResults in hyperkalaemia and later, the development of hypertension.\r\n\r\nTreatment: thiazide diuretics normalise electrolytes\r\n\r\nNon-genetic confirmatory testing: electrolytes \nSources: Expert list",
"entity_name": "KLHL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:38:40.118499+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF8 as ready",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:38:40.102319+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf8 has been classified as Green List (High Evidence).",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:38:34.744393+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF8 as Green List (high evidence)",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:38:34.713875+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf8 has been classified as Green List (High Evidence).",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:38:22.627090+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF8 was added\ngene: IRF8 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: IRF8.\nMode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990\nReview for gene: IRF8 was set to GREEN\nAdded comment: At least 4 families reported with bi-allelic variants. Gene-disease association also proposed for mono-allelic variants but only two individuals reported.\r\n\r\nRecurrent infections presenting in infancy.\r\n\r\nTreatment: BMT\r\n\r\nNon-genetic confirmatory testing available \nSources: Expert list",
"entity_name": "IRF8",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:34:37.172897+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RB as ready",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:34:37.163785+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:34:23.995539+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RB were changed from Inflammatory bowel disease; Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#\t612567 to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#\t612567",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:34:09.652816+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL10RB as Green List (high evidence)",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:34:09.643879+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:34:00.383841+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IL10RB.\nTag immunological tag was added to gene: IL10RB.",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:33:48.017080+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:31:46.737582+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10 as ready",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:31:46.726977+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10 has been classified as Green List (High Evidence).",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:31:40.469680+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL10 as Green List (high evidence)",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:31:40.458472+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10 has been classified as Green List (High Evidence).",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:31:31.022911+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IL10.\nTag immunological tag was added to gene: IL10.",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:31:20.033351+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10 was added\ngene: IL10 was added to BabyScreen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL10 were set to 22236434; 20951137; 19890111\nPhenotypes for gene: IL10 were set to Autoinflammatory syndrome, MONDO:0019751, IL10-related\nReview for gene: IL10 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset in infancy and childhood.\r\n\r\nTreatment: BMT\r\n\r\nNon-genetic confirmatory testing: flow cytometry \nSources: Expert list",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:23:31.955256+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:23:31.947185+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:23:28.656482+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1 were changed from Insulin-like growth factor deficiency to Insulin-like growth factor I deficiency, MIM# 608747",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:23:15.364454+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGF1 as Green List (high evidence)",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:23:15.351901+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:23:05.221154+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: IGF1.\nTag endocrine tag was added to gene: IGF1.",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:22:54.173309+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insulin-like growth factor I deficiency, MIM# 608747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:15:11.745830+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNT3 as ready",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:15:11.736889+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galnt3 has been classified as Green List (High Evidence).",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:15:06.461074+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALNT3 as Green List (high evidence)",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:15:06.446985+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galnt3 has been classified as Green List (High Evidence).",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:14:31.955928+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNT3 was added\ngene: GALNT3 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: GALNT3.\nMode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900\nReview for gene: GALNT3 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset in infancy/childhood.\r\n\r\nTreatment: dietary restriction, phosphate binders, acetazolamide\r\n\r\nNon-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23 \nSources: Expert list",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:10:43.068571+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FECH as ready",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:10:43.029171+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:10:36.900008+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FECH as Green List (high evidence)",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:10:36.889576+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:10:25.763955+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FECH was added\ngene: FECH was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, haematological tags were added to gene: FECH.\nMode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1, MIM#\t177000\nReview for gene: FECH was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset of photosensitivity is in infancy/childhood.\r\n\r\nTreatment: Afamelanotide\r\n\r\nNon-genetic confirmatory testing: free protoporphyrin \nSources: Expert list",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:49.570203+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13B as ready",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:49.539303+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13b has been classified as Green List (High Evidence).",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:43.707871+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F13B were changed from Factor XIIIB deficiency MIM# 613235; Factor XIIIB deficiency, MIM#\t613235 to Factor XIIIB deficiency, MIM#613235",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:23.895414+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F13B as Green List (high evidence)",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:23.882312+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13b has been classified as Green List (High Evidence).",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:13.496873+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: F13B.\nTag haematological tag was added to gene: F13B.",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:05:02.086571+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:01:29.980077+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F10 as Green List (high evidence)",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:01:29.967744+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Green List (High Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:01:20.690231+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: F10.\nTag treatable tag was added to gene: F10.\nTag haematological tag was added to gene: F10.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:01:05.178586+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nVariable severity: for review. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis.\r\n\r\nTreatment: plasma-derived factor 10 concentrate (Coagadex); to: Well established gene-disease association.\r\n\r\nAffected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis.\r\n\r\nTreatment: plasma-derived factor 10 concentrate (Coagadex)",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:00:57.673184+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: F10: Changed rating: GREEN",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:00:18.695137+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T13:00:18.686591+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:59:43.750336+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from Xeroderma pigmentosum, group F, MIM#\t278760; Xeroderma pigmentosum; Fanconi anaemia, complementation group Q, MIM#\t615272 to Fanconi anemia, complementation group Q, MIM# 615272",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:59:27.612270+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC4 as Green List (high evidence)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:59:27.602773+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:59:18.080350+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ERCC4.\nTag haematological tag was added to gene: ERCC4.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:59:07.477206+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:56:29.673413+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP7B1 as ready",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:56:29.662257+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:56:26.250307+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP7B1 were changed from Cholestasis, severe to Bile acid synthesis defect, congenital, 3, MIM# 613812",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:56:13.278351+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP7B1 were set to ",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:55:58.794168+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP7B1 as Green List (high evidence)",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:55:58.779613+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp7b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:55:48.181864+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP7B1.\nTag liver tag was added to gene: CYP7B1.",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:55:36.353518+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24658845, 31337596, 30366773, 9802883; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:51:36.727967+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL3 as ready",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:51:36.718293+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:51:28.611323+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL3 as Green List (high evidence)",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:51:28.602903+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:51:16.296572+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL3 was added\ngene: CUL3 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: CUL3.\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE 614496\nReview for gene: CUL3 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nVariants in this gene also cause a neurodevelopmental disorder; however, there is some genotype-phenotype correlation literature to help distinguish the two.\r\n\r\nResults in hyperkalaemia and development of hypertension. However, the onset of hypertension is generally later in life.\r\n\r\nTreatment: thiazide diuretics normalise biochemical abnormalities \nSources: Expert list",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:42:54.960959+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ6 as ready",
"entity_name": "COQ6",
"entity_type": "gene"
}
]
}