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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1440",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1438",
"results": [
{
"created": "2021-01-19T10:38:09.566784+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692347, 22140057, 24668755, 32216639, 31914496, 29681084; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:34:10.156904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX3 as ready",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:34:10.148586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx3 has been classified as Green List (High Evidence).",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:34:02.477486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:33:39.034926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALX3 were set to ",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:33:18.846537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:33:00.938720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is part of the phenotype. \nSources: Expert list; to: Well established gene-disease association.\r\nSources: Expert list",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:32:12.315650+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX3 as ready",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:32:12.307542+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx3 has been classified as Green List (High Evidence).",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:32:06.333360+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM# 136760",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:31:37.645378+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALX3 were set to ",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:31:10.658895+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:30:41.701896+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALX3: Added comment: Well established gene-disease association.; Changed publications: 19409524",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:29:58.154505+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-19T10:27:51.787715+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 1, MIM# 136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:26:56.389930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALX1 as ready",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:26:56.381161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alx1 has been classified as Green List (High Evidence).",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:26:18.252251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:25:59.103416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALX1 were set to ",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:25:35.921420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:25:13.457056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:23:31.151793+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:22:56.686696+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALX1 were set to ",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T10:22:25.672183+11:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:40:48.147358+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"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": "2021-01-19T07:39:57.767936+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"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": "2021-01-19T07:33:38.387069+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:33:38.376948+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:33:36.154492+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:33:07.481357+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:32:38.550605+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:31:33.767101+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:31:33.756815+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:31:27.086687+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:30:54.872662+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:30:25.158660+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:29:09.978612+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:29:09.970889+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:29:06.663634+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:28:38.698942+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:28:09.078081+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:27:10.722248+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:27:10.710110+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:27:07.808266+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:26:27.590252+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:25:58.228609+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:24:18.370735+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:24:18.345369+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:24:15.498608+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 to Aicardi-Goutieres syndrome 6, 615010 autosomal recessive",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-01-19T07:23:42.856737+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:46:57.383591+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:46:29.031779+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POFUT1 were set to ",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:43:53.596897+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to Glycosylphosphatidylinositol deficiency, MIM# 610293; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events",
"entity_name": "PIGM",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:43:18.501142+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol deficiency, MIM# 610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGM",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:38:56.806226+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:38:28.349401+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMPPA were set to ",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:36:35.033808+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt, MIM# 618885",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:36:01.657323+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GALNT2: Changed phenotypes: Congenital disorder of glycosylation, type IIt, MIM# 618885",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:20:56.312991+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:20:56.303021+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:20:52.050657+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA2 as Green List (high evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:20:52.040478+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:20:22.881143+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Cobblestone Malformations. Sources: Literature\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA2 were set to 32827036\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855\nReview for gene: LAMA2 was set to GREEN\nAdded comment: Variants in this gene are associated with a range of cortical malformations in addition to the muscle phenotype. Four individuals reported with cobblestone malformations, though note in one individual MRI was normal and the abnormalities were identified on autopsy. \nSources: Literature",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:14:36.816790+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARGE1 as ready",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:14:36.805185+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: large1 has been classified as Green List (High Evidence).",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:14:22.335853+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:13:53.683970+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:13:21.071812+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:12:30.699210+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:12:30.685992+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fktn has been classified as Green List (High Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:12:27.526471+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:11:59.294997+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:11:25.504383+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:10:36.882203+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:10:36.869528+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:10:33.407429+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:10:03.032423+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:09:31.979267+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:08:10.932995+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:08:10.921519+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:08:06.421101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:07:32.678725+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMB1 were set to ",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:06:59.848570+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:06:23.828739+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467, 25925986; Phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:05:11.105555+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB1 as ready",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:05:11.092008+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:04:45.994155+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMB1 as Green List (high evidence)",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:04:45.985986+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:02:53.885267+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB1 was added\ngene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review\nMode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMB1 were set to 23472759; 25925986\nPhenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM#\t615191\nReview for gene: LAMB1 was set to GREEN\nAdded comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings. \nSources: Expert Review",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-18T08:02:33.722946+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB1 was added\ngene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review\nMode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMB1 were set to 23472759; 25925986\nPhenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM#\t615191\nReview for gene: LAMB1 was set to GREEN\nAdded comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings. \nSources: Expert Review",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:59:00.252365+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"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": "2021-01-17T21:58:40.562101+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:58:40.550662+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:58:38.099235+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:58:09.648464+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:57:35.697702+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:57:08.633595+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Amber List (moderate evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:57:08.623232+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:56:38.234627+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-01-17T21:49:54.525939+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H1E as ready",
"entity_name": "HIST1H1E",
"entity_type": "gene"
}
]
}