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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=770",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=768",
"results": [
{
"created": "2022-09-15T16:03:40.487502+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.4",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-09-14T09:34:39.637557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.325",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: None; Publications: 15590965, 17041932, 15282353; Phenotypes: Carney complex variant MIM#60883; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "MYH8",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:27:55.481163+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to 9354794; 19064609",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:25:46.174573+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NODAL as Amber List (moderate evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:25:46.161702+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Amber List (Moderate Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:25:31.326200+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad.\r\n\r\nThe missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED.\r\n\r\nA total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance.\r\n\r\nDiscussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:24:29.962899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to 9354794; 19064609",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:24:09.092781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NODAL as Amber List (moderate evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:24:09.078548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Amber List (Moderate Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:23:49.814212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad.\r\n\r\nThe missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED.\r\n\r\nA total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance.\r\n\r\nDiscussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:23:06.745928+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NODAL: Predominantly associated with complex congenital heart disease (Amber), no evidence for association with major brain abnormalities.",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:22:12.422450+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to 9354794; 19064609",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:21:45.668176+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:21:13.400263+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NODAL as Amber List (moderate evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:21:13.392948+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Amber List (Moderate Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:14:40.464541+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:14:24.904954+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to 9354794; 19064609",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:11:50.914386+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NODAL as Amber List (moderate evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:11:50.905375+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Amber List (Moderate Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-13T08:11:16.095957+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad.\r\n\r\nThe missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED.\r\n\r\nA total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance.\r\n\r\nDiscussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-09-12T20:20:50.567062+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-09-12T18:54:23.230850+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC16A1 as ready",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-12T18:54:23.217906+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-12T13:21:14.362357+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:59:01.545228+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC16A1 were set to ",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:56:48.816269+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:55:27.780903+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:55:27.764772+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:54:26.151503+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:53:48.125577+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KCNJ11 were set to ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-09-12T12:52:46.973784+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:47:28.053730+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:47:28.045482+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:42:43.706095+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:40:30.620706+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HNF4A were set to ",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:38:26.245006+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:34:22.367380+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HNF1A as ready",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:34:22.359926+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnf1a has been classified as Green List (High Evidence).",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:22:00.512833+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:03:02.804021+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HNF1A were set to ",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:02:29.642909+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:01:56.608694+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:01:56.600834+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-09-12T11:00:06.823553+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-09-12T10:59:34.419479+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-09-12T10:58:56.533842+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GLUD1 as ready",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-09-12T10:58:56.519668+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-09-12T10:10:11.371963+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:34:48.637733+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GLUD1 were set to ",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:32:30.533094+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:31:52.604967+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABCC8 as ready",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:31:52.597045+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Green List (High Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:30:00.852456+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:27:05.395951+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ABCC8 were set to ",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-09-12T09:26:18.846961+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-09-12T07:55:07.837456+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"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": "2022-09-10T06:49:19.281811+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAT as ready",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-10T06:49:19.270349+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-10T06:49:11.122079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAT as Green List (high evidence)",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-10T06:49:11.110708+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:07:39.227518+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-09-09T16:06:32.365675+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTD as Amber List (moderate evidence)",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:06:32.358330+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Amber List (Moderate Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:06:04.223279+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable severity, but treatable disorder.; to: Variable severity, but treatable disorder. Difficult to predict phenotype from genotype.",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:05:46.357934+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BTD: Changed rating: AMBER",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:05:19.290513+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-09-09T16:04:49.086781+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTD as Green List (high evidence)",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:04:49.079420+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Green List (High Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:04:37.483931+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: BTD.",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:04:03.871678+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable severity, but treatable disorder. Consider genotype-phenotype correlation before final decision.; to: Variable severity, but treatable disorder.",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:03:51.484427+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BTD: Changed rating: GREEN",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:03:14.479331+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH19 as ready",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:03:14.471441+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh19 has been classified as Green List (High Evidence).",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:01:42.963011+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:01:30.898840+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH19 as Green List (high evidence)",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:01:30.886983+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh19 has been classified as Green List (High Evidence).",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2022-09-09T16:01:17.396800+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#300088); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:59:27.721337+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: RS1.",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:58:47.535106+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: OAT.",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:58:06.064216+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: NR2E3.",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:56:56.753935+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TAT.",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:56:47.857968+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAT: Changed rating: GREEN",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:55:00.454428+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GP1BA as ready",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:55:00.440437+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1ba has been classified as Red List (Low Evidence).",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:53.291409+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA1 as ready",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:53.280294+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Red List (Low Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:47.565382+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HBA1 as Red List (low evidence)",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:47.550700+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Red List (Low Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:36.021253+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA2 as ready",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:35.992809+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Red List (Low Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:25.438201+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:15.186664+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HBA2 as Red List (low evidence)",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:15.170100+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Red List (Low Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:06.607538+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GP1BA as Red List (low evidence)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:54:06.595353+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1ba has been classified as Red List (Low Evidence).",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:53:56.456962+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:53:48.970181+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: HBA2.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:53:40.244209+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:52:45.253108+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-09-09T15:52:34.966322+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
}
]
}