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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1808",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1806",
"results": [
{
"created": "2020-05-05T08:58:37.212501+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Green List (High Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:58:26.893301+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GFAP were set to Alexander disease, MIM#\t203450\nReview for gene: GFAP was set to GREEN\nAdded comment: 3 forms of Alexander disease are recognised, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. \nSources: Expert list",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:54:36.624659+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:54:36.616261+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.104",
"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": "2020-05-05T08:54:01.186477+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALC as Green List (high evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:54:01.177314+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.104",
"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": "2020-05-05T08:53:53.064761+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, MIM#\t245200\nReview for gene: GALC was set to GREEN\nAdded comment: Typically presents in infancy, though later onset in childhood, adolescence and adulthood described. \nSources: Expert list",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:51:44.882228+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPRS as ready",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:51:44.870137+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eprs has been classified as Green List (High Evidence).",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:51:40.082172+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPRS as Green List (high evidence)",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:51:40.069980+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eprs has been classified as Green List (High Evidence).",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:51:31.972806+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPRS was added\ngene: EPRS was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPRS were set to 29576217\nPhenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#\t617951\nReview for gene: EPRS was set to GREEN\nAdded comment: Four unrelated families reported with this neurodegenerative disorder. Onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, dysphagia, severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. \nSources: Expert list",
"entity_name": "EPRS",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:50:22.758718+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B5 as ready",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:50:22.745608+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:50:18.900788+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B5 as Green List (high evidence)",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:50:18.891992+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:50:08.536195+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B5 was added\ngene: EIF2B5 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, MIM#\t603896\nReview for gene: EIF2B5 was set to GREEN\nAdded comment: Age of onset can vary from infancy to adulthood. \nSources: Expert list",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:48:27.405086+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:48:27.391624+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:48:20.323805+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B4 as Green List (high evidence)",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:48:20.315275+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:48:10.786383+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B4 was added\ngene: EIF2B4 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter, MIM#\t603896\nReview for gene: EIF2B4 was set to GREEN\nAdded comment: Onset can vary from infancy to adulthood. \nSources: Expert list",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:47:05.548083+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B3 as ready",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:47:05.533382+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:47:00.423393+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B3 as Green List (high evidence)",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:47:00.413987+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:46:51.053565+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B3 was added\ngene: EIF2B3 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, MIM#\t603896\nReview for gene: EIF2B3 was set to GREEN\nAdded comment: Age of onset can vary from infancy to adulthood. \nSources: Expert list",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:45:41.530931+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:45:41.518479+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:45:31.882001+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B2 as Green List (high evidence)",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:45:31.872665+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:45:22.245817+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B2 was added\ngene: EIF2B2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, MIM#\t603896\nReview for gene: EIF2B2 was set to GREEN\nAdded comment: Age of onset can vary from infancy to adulthood. \nSources: Expert list",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:44:02.193777+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B1 as ready",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:44:02.184616+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:43:52.672312+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2B1 as Green List (high evidence)",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:43:52.659185+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:43:43.457655+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B1 was added\ngene: EIF2B1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, MIM#\t603896\nReview for gene: EIF2B1 was set to GREEN\nAdded comment: Age of onset can vary from infancy to adulthood. \nSources: Expert list",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:36:56.659232+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EARS2 as ready",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:36:56.646236+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Green List (High Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:36:51.640128+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EARS2 as Green List (high evidence)",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:36:51.631379+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Green List (High Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:36:42.110614+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EARS2 was added\ngene: EARS2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EARS2 were set to 22492562; 23008233; 25854774; 26619324; 26893310\nPhenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, MIM#\t614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate\nReview for gene: EARS2 was set to GREEN\nAdded comment: Multiple families reported, onset typically in infancy/childhood. \nSources: Expert list",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:23:14.026247+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC63 as ready",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:23:14.022203+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, not a ciliopathy. Retain as Amber due to phenotypic overlap.",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:23:13.991799+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec63 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:23:11.606720+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 (MIM#617004)",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:22:28.311886+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC63 were set to ",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:21:50.532623+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEC63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:21:22.151850+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC63 as Amber List (moderate evidence)",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:21:22.142144+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec63 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:19:52.190694+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP55 as ready",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:19:52.178589+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:15:32.325738+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:14:29.458499+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP55 were set to ",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:14:04.821752+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:13:35.338274+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP55 as Amber List (moderate evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:13:35.327486+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:12:13.549399+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAPT1 as ready",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:12:13.536007+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:11:54.210699+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAPT1 as ready",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:11:54.201602+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:11:49.242917+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Amber List (moderate evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:11:49.230927+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:11:02.317266+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:10:58.477913+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:10:34.896832+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAPT1 were set to ",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:10:14.544073+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:09:54.765571+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:09:25.109017+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Amber List (moderate evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:09:25.095377+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:08:54.416306+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:08:14.886828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAPT1 as ready",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:08:14.877708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:08:06.241728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:07:46.961852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAPT1 were set to ",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:07:24.144317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:07:04.064930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Amber List (moderate evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:07:04.052874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:06:44.086165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:06:01.932673+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPT1 were changed from Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:06:00.292558+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAPT1 as ready",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:06:00.280607+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:05:40.725372+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:05:09.636356+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAPT1 were set to ",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:04:25.974751+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:02:24.567996+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Amber List (moderate evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:02:24.520975+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:01:02.637433+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC28B as ready",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:01:02.625866+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:00:56.981340+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC28B as Amber List (moderate evidence)",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:00:56.973235+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:00:07.575806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC28B as Amber List (moderate evidence)",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T21:00:07.563540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc28b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:59:44.910829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC28B: Added comment: PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.; Changed rating: AMBER; Changed publications: 32139166; Changed phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900, Joubert syndrome",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:58:52.479663+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC28B was added\ngene: CCDC28B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC28B were set to 32139166\nPhenotypes for gene: CCDC28B were set to Joubert syndrome\nReview for gene: CCDC28B was set to AMBER\nAdded comment: PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS. \nSources: Expert list",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:56:17.924525+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC9 as ready",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:56:17.915162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc9 has been classified as Green List (High Evidence).",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:56:13.287121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, MIM# 617622 to Joubert syndrome 30, MIM# 617622",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:55:32.815585+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC28B were changed from {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Joubert syndrome",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:55:13.016742+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC28B were set to 32139166",
"entity_name": "CCDC28B",
"entity_type": "gene"
}
]
}