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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1339",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1337",
"results": [
{
"created": "2021-04-26T13:58:52.867475+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:58:30.618861+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1D were set to ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:58:07.112205+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:44:41.649498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCGR as ready",
"entity_name": "GCGR",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:44:41.639210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcgr has been classified as Green List (High Evidence).",
"entity_name": "GCGR",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:44:33.667377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCGR as Green List (high evidence)",
"entity_name": "GCGR",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:44:33.656690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcgr has been classified as Green List (High Evidence).",
"entity_name": "GCGR",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:44:14.190443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCGR was added\ngene: GCGR was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GCGR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCGR were set to 19657311; 25695890; 27933176; 30032256; 30294546\nPhenotypes for gene: GCGR were set to Mahvash disease, MIM#\t619290\nReview for gene: GCGR was set to GREEN\nAdded comment: Mahvash disease (MVAH) is caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonaemia without glucagonoma syndrome, and occasional hypoglycaemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumours.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "GCGR",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:39:44.981373+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from syndromic congenital dyserythropoietic anaemia to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:39:32.681315+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS4A: Changed phenotypes: CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:39:19.760333+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:39:01.954150+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:38:49.277099+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:38:20.365089+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:37:56.239608+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:37:27.964663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:37:08.281372+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:36:41.632603+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:36:26.551288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:36:06.985338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:32:26.845444+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:31:48.335429+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS4A",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:29:13.465883+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:29:13.452473+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:29:10.036065+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:29:10.025110+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:28:59.351950+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286\nReview for gene: MED27 was set to GREEN\nAdded comment: 16 individuals from 11 families reported with this disorder, spasticity is a prominent feature. \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:27:54.738970+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:27:54.724546+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:27:50.785348+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:27:50.775518+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:27:27.195506+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Cataract. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286\nReview for gene: MED27 was set to GREEN\nAdded comment: 16 individuals from 11 families reported. \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:26:08.257672+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:25:49.633096+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:25:49.621829+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:25:41.416289+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:25:38.811486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:25:11.594989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:24:53.640142+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:24:17.264287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T13:23:43.127916+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-04-26T10:43:13.211368+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1062",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620733, 28472301, 31139143; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-04-26T09:47:39.584998+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.4",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 34 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2021-04-25T17:32:01.711891+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-04-25T17:32:01.692347+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-04-25T17:31:59.232318+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-04-25T17:31:31.478886+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLM were set to ",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-04-25T17:31:04.553799+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-04-25T17:30:39.156952+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-04-25T07:15:49.186124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB6 as ready",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2021-04-25T07:15:49.173903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb6 has been classified as Green List (High Evidence).",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2021-04-25T07:15:41.843425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB6 were changed from to Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153; Microphthalmia, isolated, with coloboma 7, MIM# 614497; Dyschromatosis universalis hereditaria 3, MIM# 615402",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2021-04-25T07:15:17.375330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB6 were set to ",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2021-04-25T07:14:31.881537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2021-04-25T07:14:13.374823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23180570; Phenotypes: Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153, Microphthalmia, isolated, with coloboma 7, MIM# 614497, Dyschromatosis universalis hereditaria 3, MIM# 615402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:28:05.574787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA1 as ready",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:28:05.562967+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca1 has been classified as Green List (High Evidence).",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:25:00.012743+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-24T19:24:39.526129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM15 as ready",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:24:39.514441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:24:31.290590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM15 as Amber List (moderate evidence)",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:24:31.280872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:23:44.546979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM15 was added\ngene: PRDM15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM15 were set to 31950080\nPhenotypes for gene: PRDM15 were set to Steroid resistant nephrotic syndrome; Holoprosencephaly\nReview for gene: PRDM15 was set to AMBER\nAdded comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic SRNS including HPE, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data focused on the brain phenotype. Two additional homozygous missense identified with isolated SRNS. \nSources: Literature",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:23:26.113979+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM15 as ready",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:23:26.104201+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:23:23.837922+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM15 as Amber List (moderate evidence)",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:23:23.829041+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:22:11.966734+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM15 was added\ngene: PRDM15 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM15 were set to 31950080\nPhenotypes for gene: PRDM15 were set to Steroid resistant nephrotic syndrome\nReview for gene: PRDM15 was set to AMBER\nAdded comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic SRNS including HPE, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data focused on the brain phenotype.\r\n\r\nTwo additional homozygous missense identified with isolated SRNS. \nSources: Literature",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:13:25.564839+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data. \nSources: Literature; to: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.\r\n\r\nTwo additional homozygous missense identified with isolated SRNS.\r\nSources: Literature",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:13:00.948248+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM15 as ready",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:13:00.938213+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:12:57.105433+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM15 as Amber List (moderate evidence)",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:12:57.086188+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:12:33.883390+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM15 was added\ngene: PRDM15 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM15 were set to 31950080\nPhenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies\nReview for gene: PRDM15 was set to AMBER\nAdded comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data. \nSources: Literature",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:05:17.360614+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCH1 as ready",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:05:17.347439+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:04:15.068274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC2 as ready",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:04:15.034411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic2 has been classified as Green List (High Evidence).",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:04:07.457395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5, MIM# 609637; MONDO:0012322",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:03:49.238110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC2 were set to ",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:03:28.105018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:03:08.855912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771712, 11285244; Phenotypes: Holoprosencephaly 5, MIM# 609637, MONDO:0012322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:02:17.022687+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC2 as ready",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:02:17.011786+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic2 has been classified as Green List (High Evidence).",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:02:14.242397+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5, MIM# 609637; MONDO:0012322",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:01:14.733533+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC2 were set to ",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:00:49.328624+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T19:00:18.708801+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771712, 11285244; Phenotypes: Holoprosencephaly 5, MIM# 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:58:45.253763+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGIF1 as ready",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:58:45.234353+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgif1 has been classified as Green List (High Evidence).",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:58:42.172103+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:58:13.320795+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGIF1 were set to ",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:57:43.881698+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:57:12.698556+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:56:26.170659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGIF1 as ready",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:56:26.159086+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgif1 has been classified as Green List (High Evidence).",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:56:21.852505+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:55:55.175194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGIF1 were set to ",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:55:28.987157+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2021-04-24T18:54:51.834667+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGIF1",
"entity_type": "gene"
}
]
}