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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=714",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=712",
"results": [
{
"created": "2022-10-14T16:24:42.878622+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAN as ready",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:24:42.870741+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gan has been classified as Red List (Low Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:24:39.325800+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:24:25.666300+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAN as Red List (low evidence)",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:24:25.656767+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gan has been classified as Red List (Low Evidence).",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:24:13.328715+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: None",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:21:42.776162+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:21:24.814394+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:21:05.984556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:20:48.749112+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:20:20.997667+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAMT as ready",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:20:20.988235+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:20:03.219201+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:19:25.169967+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAMT were set to ",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:18:20.631916+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:17:48.140699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:17:22.904693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:16:51.725985+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAMT as ready",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:16:51.716484+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:16:44.763955+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAMT.",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:05:46.601162+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNS as ready",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:05:46.589814+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galns has been classified as Green List (High Evidence).",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:04:38.593176+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNS as ready",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:04:38.583542+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galns has been classified as Green List (High Evidence).",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:04:34.623614+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:03:26.695545+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALNS.",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:02:49.178561+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALNS.",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:01:10.966048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALNS.",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:00:52.849687+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALNS.",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:00:27.242153+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T16:00:14.951600+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALNS.",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-14T15:59:30.291662+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-10-14T15:59:30.272963+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-10-14T15:59:21.614962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, MIM#245200",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-10-14T15:59:09.397606+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALC.",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-10-14T13:33:54.583823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IMPA1 as ready",
"entity_name": "IMPA1",
"entity_type": "gene"
},
{
"created": "2022-10-14T13:33:54.575862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: impa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IMPA1",
"entity_type": "gene"
},
{
"created": "2022-10-14T13:28:57.705023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IMPA1 as Amber List (moderate evidence)",
"entity_name": "IMPA1",
"entity_type": "gene"
},
{
"created": "2022-10-14T13:28:57.696126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.406",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: impa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IMPA1",
"entity_type": "gene"
},
{
"created": "2022-10-14T13:00:52.367814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.405",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IMPA1 was added\ngene: IMPA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IMPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IMPA1 were set to 26416544; 24554717; 32839513; 17460611\nPhenotypes for gene: IMPA1 were set to intellectual disability, autosomal recessive 59 MONDO:0015020\nReview for gene: IMPA1 was set to AMBER\nAdded comment: A homozygous frameshift variant identified in a large Brazilian consanguineous family with ID, also supporting functional studies and null mouse models. \nSources: Literature",
"entity_name": "IMPA1",
"entity_type": "gene"
},
{
"created": "2022-10-14T12:21:08.392144+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CHST3 was added\ngene: CHST3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST3 were set to 15368507; 17618475\nPhenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095\nReview for gene: CHST3 was set to GREEN\nAdded comment: Severe short stature of prenatal onset with disproportionately shortened limbs. \nSources: Literature, Expert list",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2022-10-14T11:49:31.438967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.404",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARNT2 as ready",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2022-10-14T11:49:31.428690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.404",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2022-10-14T11:42:46.210387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.404",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARNT2 as Amber List (moderate evidence)",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2022-10-14T11:42:46.194022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.404",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2022-10-14T11:02:00.717846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.403",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARNT2 was added\ngene: ARNT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARNT2 were set to 11381139; 24022475\nPhenotypes for gene: ARNT2 were set to Webb-Dattani syndrome MONDO:0014404\nReview for gene: ARNT2 was set to AMBER\nAdded comment: A homozygous frameshift (c.1373_1374dupTC) in six affected children from a highly consanguineous family with a syndromic phenotype including microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. In a Arnt2(-/-) mouse model embryos die perinatally and exhibit impaired hypothalamic development. \nSources: Literature",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:16:03.721238+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.548",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SDHD as ready",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:16:03.712933+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.548",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Red List (Low Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:15:47.333961+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.548",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:15:35.779774+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.547",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:15:24.798209+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.546",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SDHD as Red List (low evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:15:24.783967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.546",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Red List (Low Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:14:26.053431+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:03:30.722397+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C9 as ready",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:03:30.713453+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c9 has been classified as Green List (High Evidence).",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:03:21.331196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C9.",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:03:18.881888+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CCDC8 was added\ngene: CCDC8 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC8 were set to 21737058\nPhenotypes for gene: CCDC8 were set to 3-M syndrome 3 - MIM#614205\nReview for gene: CCDC8 was set to GREEN\nAdded comment: Severe short stature with relative macrocephaly/preserved HC noted antenatally and at birth. \nSources: Literature, Expert list",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2022-10-13T17:03:11.723377+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:59:55.217755+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8B as ready",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:59:55.209271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8b has been classified as Green List (High Evidence).",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:59:47.287528+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:58:26.038318+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8A as ready",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:58:26.028341+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8a has been classified as Red List (Low Evidence).",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:58:08.025043+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8A as Red List (low evidence)",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:58:08.014436+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8a has been classified as Red List (Low Evidence).",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:57:56.171765+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:55:45.004157+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C7 as ready",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:55:44.991960+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c7 has been classified as Green List (High Evidence).",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:54:32.405818+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C7.",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:54:21.550374+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:46:39.424629+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:46:39.415013+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:46:34.007695+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from to Developmental and epileptic encephalopathy 42, MIM# 617106",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:40:13.695096+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1A were set to ",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:39:22.996135+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:39:01.260806+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:38:38.162966+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:32:02.469802+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Green List (high evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:32:02.459584+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:31:30.179554+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:30:20.922695+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:29:30.762387+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Amber List (moderate evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:29:30.748883+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:28:31.886445+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2orf69 as ready",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:28:31.875619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2orf69 has been classified as Green List (High Evidence).",
"entity_name": "C2orf69",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:28:09.734812+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf57 as ready",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:28:09.730712+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Seizures are part of the phenotype.",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:28:09.703759+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:27:59.006538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:27:27.419416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf57 were set to ",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:26:53.474407+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:26:01.513062+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTD as ready",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:26:01.497455+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Green List (High Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:25:57.263342+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:25:24.702168+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BTD were set to ",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:24:44.911262+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:23:33.521188+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOLA3 as ready",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:23:33.512536+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bola3 has been classified as Green List (High Evidence).",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:23:30.573701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:22:57.487188+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BOLA3 were set to ",
"entity_name": "BOLA3",
"entity_type": "gene"
}
]
}