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{
"count": 220917,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1621",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1619",
"results": [
{
"created": "2020-09-01T14:57:06.900543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP11 were changed from to Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:56:51.356674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP11 were set to ",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:56:39.412603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:53.377908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:53.372506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Principal association is between bi-allelic variants and HLH.",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:53.338169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:42.366343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRF1 were changed from to Aplastic anemia 609135; Hemophagocytic lymphohistiocytosis, familial, 2 603553; Lymphoma, non-Hodgkin 605027",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:30.733846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRF1 were set to ",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:14.776646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:31.134023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLCS as ready",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:31.120940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Green List (High Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:24.700362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HLCS were changed from to Holocarboxylase synthetase deficiency, MIM# 253270",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:11.071748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HLCS were set to ",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:52:54.829205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HLCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:52:38.639878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:50:37.344339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:50:10.581099+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:49:39.815448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:49:39.807428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:49:33.189785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:48:47.393459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA5A were set to ",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:48:28.890048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:48:12.684265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:47:01.140589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS1 as ready",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:47:01.130659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs1 has been classified as Green List (High Evidence).",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:46:58.010623+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A, MIM# 252150",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:46:33.247169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS1 were set to ",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:46:05.249617+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOCS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:45:37.364285+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921896, 12754701, 21031595; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:44:54.730596+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS1 as ready",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:44:54.710927+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs1 has been classified as Green List (High Evidence).",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:44:52.345053+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A, MIM# 252150",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:44:22.986679+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS1 were set to ",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:44:00.454096+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOCS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:43:30.813033+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921896, 12754701, 21031595; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:43:16.816909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A, MIM# 252150",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:42:32.638588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS1 were set to ",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:42:07.303045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921896, 12754701; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:40:16.634666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOCS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:31:02.760281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSR1 as ready",
"entity_name": "OSR1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:31:02.749916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osr1 has been classified as Red List (Low Evidence).",
"entity_name": "OSR1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:30:54.920576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSR1 as Red List (low evidence)",
"entity_name": "OSR1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:30:54.896155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osr1 has been classified as Red List (Low Evidence).",
"entity_name": "OSR1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:30:40.592737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OSR1",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:03:13.827640+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM1A as ready",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:03:13.817987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Green List (High Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:03:10.141455+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM1A were changed from to Cleft palate, psychomotor retardation, and distinctive facial features 616728",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:02:51.417749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM1A were set to ",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:02:22.789585+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:01:54.783355+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T13:00:57.180080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:58.811875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM1A as ready",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:58.801815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Green List (High Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:48.294785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM1A were changed from to Cleft palate, psychomotor retardation, and distinctive facial features 616728; Multiple myeloma",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:36.532000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:58:18.258185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM1A were set to ",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:54:03.282206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31903676, 30728324; Phenotypes: Osteochondrodysplasia, 184260, Achondrogenesis, type IA, 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:25.952980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:25.943630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:53:20.247300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from to Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841)",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:52:59.174360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL11A1 were set to ",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:52:31.200609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4061",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19487666; Phenotypes: Aplastic anemia 609135, Hemophagocytic lymphohistiocytosis, familial, 2 603553, Lymphoma, non-Hodgkin 605027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:51:44.660532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: COL11A1 was changed from to Other",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:51:29.810501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:49:59.180136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10190325; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T12:48:19.884850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26913920, 32381389; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T11:23:59.931207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21031595; Phenotypes: Molybdenum cofactor deficiency A 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T11:22:11.660169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29559475, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728, Multiple myeloma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2020-09-01T10:48:51.400120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 25073711, 30245514, 32427345, 27081569, 21035103; Phenotypes: Fibrochondrogenesis 1 (MIM#228520), Marshall syndrome (MIM#154780), Stickler syndrome, type II (MIM#604841), {Lumbar disc herniation, susceptibility to}, (MIM#603932), ?Deafness, autosomal dominant 37, (MIM#618533); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-09-01T09:26:39.548744+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS2L2 as Amber List (moderate evidence)",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-09-01T09:26:39.538771+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:39:29.640511+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GON7.",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:39:14.271055+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GON7.",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:56.690101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GON7.",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:37.069595+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YRDC as ready",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:37.060418+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:34.234089+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YRDC as Green List (high evidence)",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:34.226186+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:32.071626+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YRDC as ready",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:32.060468+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:24.372017+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YRDC as Green List (high evidence)",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:24.363073+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:16.092015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YRDC as ready",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:38:16.082378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:55.979755+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YRDC was added\ngene: YRDC was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YRDC were set to 31481669\nPhenotypes for gene: YRDC were set to Galloway-Mowat syndrome\nReview for gene: YRDC was set to GREEN\nAdded comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. \nSources: Literature",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:52.081647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YRDC as Green List (high evidence)",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:52.072676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yrdc has been classified as Green List (High Evidence).",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:37:48.950389+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YRDC was added\ngene: YRDC was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YRDC were set to 31481669\nPhenotypes for gene: YRDC were set to Galloway-Mowat syndrome\nReview for gene: YRDC was set to GREEN\nAdded comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. \nSources: Literature",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T08:36:52.686410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YRDC was added\ngene: YRDC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YRDC were set to 31481669\nPhenotypes for gene: YRDC were set to Galloway-Mowat syndrome\nReview for gene: YRDC was set to GREEN\nAdded comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. \nSources: Literature",
"entity_name": "YRDC",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:40.539126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GON7 as ready",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:40.527328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:33.955979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GON7 as Green List (high evidence)",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:33.947949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:06:19.124247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GON7 was added\ngene: GON7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON7 were set to 31481669\nPhenotypes for gene: GON7 were set to Galloway-Mowat syndrome\nReview for gene: GON7 was set to GREEN\nAdded comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data. \nSources: Literature",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:55.145703+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GON7 as ready",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:55.135589+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:50.673731+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GON7 as Green List (high evidence)",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:50.663895+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gon7 has been classified as Green List (High Evidence).",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:04:23.797154+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GON7 was added\ngene: GON7 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON7 were set to 31481669\nPhenotypes for gene: GON7 were set to Galloway-Mowat syndrome\nReview for gene: GON7 was set to GREEN\nAdded comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data. \nSources: Literature",
"entity_name": "GON7",
"entity_type": "gene"
},
{
"created": "2020-09-01T07:03:59.351670+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GON7 as ready",
"entity_name": "GON7",
"entity_type": "gene"
}
]
}