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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1378",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1376",
"results": [
{
"created": "2021-03-20T13:35:33.015100+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:35:24.467248+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYLK3 was added\ngene: MYLK3 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709\nPhenotypes for gene: MYLK3 were set to Dilated cardiomyopathy\nReview for gene: MYLK3 was set to AMBER\nAdded comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models. \nSources: Literature",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:34:23.004476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK3 as ready",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:34:22.991951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:34:13.718459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLK3 as Amber List (moderate evidence)",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:34:13.708026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:33:53.790339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYLK3 was added\ngene: MYLK3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709\nPhenotypes for gene: MYLK3 were set to Dilated cardiomyopathy\nReview for gene: MYLK3 was set to AMBER\nAdded comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models. \nSources: Literature",
"entity_name": "MYLK3",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:25:04.579711+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRAP as ready",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:25:04.569831+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrap has been classified as Green List (High Evidence).",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:24:42.418591+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRAP as Green List (high evidence)",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:24:42.408317+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrap has been classified as Green List (High Evidence).",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:24:32.710848+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAP was added\ngene: NRAP was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709\nPhenotypes for gene: NRAP were set to Dilated cardiomyopathy\nReview for gene: NRAP was set to GREEN\nAdded comment: Twenty unrelated families reported with childhood onset DCM. \nSources: Literature",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:23:27.571824+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRAP as ready",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:23:27.560976+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrap has been classified as Green List (High Evidence).",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:23:23.542893+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRAP as Green List (high evidence)",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:23:23.532671+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrap has been classified as Green List (High Evidence).",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:23:00.082229+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAP was added\ngene: NRAP was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709\nPhenotypes for gene: NRAP were set to Dilated cardiomyopathy\nReview for gene: NRAP was set to GREEN\nAdded comment: Twenty unrelated families reported with childhood onset DCM. \nSources: Literature",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:21:18.866901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRAP as ready",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:21:18.856536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrap has been classified as Green List (High Evidence).",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:20:52.477219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRAP as Green List (high evidence)",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:20:52.467740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrap has been classified as Green List (High Evidence).",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:20:34.649265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAP was added\ngene: NRAP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709\nPhenotypes for gene: NRAP were set to Dilated cardiomyopathy\nReview for gene: NRAP was set to GREEN\nAdded comment: Twenty unrelated families reported with childhood onset DCM. \nSources: Literature",
"entity_name": "NRAP",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:06:55.119201+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPEG1 as ready",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:06:55.108837+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpeg1 has been classified as Green List (High Evidence).",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:06:48.168575+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPEG1 as Green List (high evidence)",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:06:48.159982+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpeg1 has been classified as Green List (High Evidence).",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:06:17.726303+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPEG1 was added\ngene: MPEG1 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MPEG1 were set to 33224153; 33692780; 28422754\nPhenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223\nReview for gene: MPEG1 was set to GREEN\nAdded comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.\r\n\r\nFour individuals reported, functional data, including animal model. \nSources: Expert list",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:04:01.820838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPEG1 as ready",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:04:01.809815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpeg1 has been classified as Green List (High Evidence).",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:03:22.516280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPEG1 as Green List (high evidence)",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:03:22.505641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpeg1 has been classified as Green List (High Evidence).",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T13:03:04.410989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPEG1 was added\ngene: MPEG1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MPEG1 were set to 33224153; 33692780; 28422754\nPhenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM#\t619223\nReview for gene: MPEG1 was set to GREEN\nAdded comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.\r\n\r\nFour individuals reported, functional data, including animal model. \nSources: Expert list",
"entity_name": "MPEG1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:58:36.943968+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:58:36.934113+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Green List (High Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:58:33.783354+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:58:11.766915+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF7 were set to ",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:57:43.278938+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:57:14.614371+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Joubert syndrome 12, MIM# 200990, Acrocallosal syndrome, MIM# 200990, MONDO:0008708, Hydrolethalus syndrome 2, MIM# 614120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:51:30.888696+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:51:30.877988+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Red List (Low Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:51:19.192351+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:50:51.368958+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:50:26.960803+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:52.339011+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INPP5E as Red List (low evidence)",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:52.329877+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Red List (Low Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:49:23.606567+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: RED; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:48:23.562732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:47:46.145390+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:47:19.369064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:46:31.771706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:46:13.192474+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:45:57.583942+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:45:57.574607+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:45:51.140180+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:45:51.130378+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:45:48.086576+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:45:18.887363+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:44:55.261876+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:44:28.299205+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:44:03.107127+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:42:56.266089+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:42:56.255536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:42:52.544109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:42:26.983048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:42:00.596999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:41:25.542707+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:40:07.090609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:40:07.081274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:39:57.562457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:39:40.580253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:39:21.012096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:39:02.684621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:38:53.755365+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:37:58.926765+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:37:28.408849+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:36:59.270107+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:34:10.371352+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:34:10.360916+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:34:07.709200+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:33:39.531652+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:33:11.833270+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:32:41.911446+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: INPP5E: Changed phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:32:02.907722+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:26:30.189485+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:26:05.265079+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSPP1: Changed phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:25:29.706656+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:25:29.696548+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:25:26.535924+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:24:57.707824+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:24:33.879093+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:24:06.023113+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:23:17.318012+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:23:17.309206+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:23:13.702430+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:22:46.727392+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:22:46.717438+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Red List (Low Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:22:44.234917+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:22:13.092812+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:21:49.981004+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2021-03-20T11:21:27.886188+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSPP1 as Red List (low evidence)",
"entity_name": "CSPP1",
"entity_type": "gene"
}
]
}