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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1390",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1388",
"results": [
{
"created": "2021-03-10T11:19:49.546768+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACAD9: Changed publications: 17564966",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:19:15.237342+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:18:09.626935+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:18:09.613434+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:18:06.110141+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, forme fruste to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:17:55.901761+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:17:46.020183+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM# 264800, Pseudoxanthoma elasticum, forme fruste, MIM# 177850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2021-03-10T11:04:59.688212+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Stroke_Adult to Stroke",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-10T09:02:46.724170+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHB as ready",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-10T09:02:46.715125+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Green List (High Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-10T09:02:43.787193+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHB were set to ",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-10T09:02:30.043306+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-10T09:02:05.619198+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-10T09:01:35.459110+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from Complex II deficiency; mitochondrial leucoencephalopathy to Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-10T09:00:58.977399+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:05:24.638429+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDT1 as ready",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:05:24.627503+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:05:15.374674+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPJ as ready",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:05:15.365500+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpj has been classified as Green List (High Evidence).",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:05:12.855460+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:04:49.131972+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPJ were set to ",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:04:25.747597+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-03-09T22:03:55.175648+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 16900296, 2097801822775483, 20522431, 32677750, 32549991, 30626697; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:53:43.032467+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:53:26.857623+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDT1 were set to ",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:52:57.666839+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDT1 as Green List (high evidence)",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:52:57.656771+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:52:45.152375+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:52:02.437166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDT1 as ready",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:52:02.426121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:51:52.058451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:51:32.417853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDT1 were set to ",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:51:09.797854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:50:49.664098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:50:39.740658+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association, microcephaly is part of the phenotype.; to: Established gene-disease association, more than 5 unrelated families reported. Microcephaly is part of the phenotype.",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:50:13.083028+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDT1 as ready",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:50:13.065632+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:49:54.269681+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDT1 were set to ",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:49:21.229865+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:48:45.657517+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:48:13.885243+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:27:27.175942+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:27:27.168212+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:27:23.768778+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DYRK1A.",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:27:06.400891+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:26:38.446682+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:26:10.559878+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:25:39.739454+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:25:06.833981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:25:06.823617+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:25:02.679624+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DYRK1A.",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:24:54.719652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:15:04.808552+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646; 33159716",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:14:41.694171+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:14:32.452328+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYRK1A: Changed publications: 21294719, 23160955, 23099646, 33159716, 25707398",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:14:11.691932+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:13:40.465089+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:11:54.276729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DYRK1A.",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:11:13.413914+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:11:13.400771+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:11:07.658212+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:10:39.555399+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:10:10.001679+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DYRK1A.",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:10:00.829886+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:09:30.774326+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:05:23.610823+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:05:23.597140+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:05:20.679041+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:04:52.847096+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5RAP2 were set to ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:04:23.468872+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:03:55.524962+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5RAP2 as Red List (low evidence)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:03:55.515787+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:03:24.651938+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:01:37.144797+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:01:37.136027+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:01:32.740393+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5RAP2 as Green List (high evidence)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:01:32.731708+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T21:00:58.063042+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK5RAP2 were set to 15793586; 22887808; 23995685; 23726037; 27761245; 20460369; 32677750; 32015000\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488\nReview for gene: CDK5RAP2 was set to GREEN\nAdded comment: More than 10 unrelated families and an animal model support gene-disease association. In addition to microcephaly and ID, a recent series of 7 deeply phenotyped individuals also reported small cochlea with incomplete partition type II was found in all cases, which was associated with progressive deafness in 4. Microphthalmia was also present in all along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases. \nSources: Expert Review",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:59:40.714079+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:59:40.702009+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:59:36.932174+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:59:18.804703+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5RAP2 as Green List (high evidence)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:59:18.793526+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:59:02.694285+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:58:21.032088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:58:21.020457+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:58:15.469266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:57:44.687448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5RAP2 were set to ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:57:11.009495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:56:30.603947+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:55:46.243443+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:55:26.771602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:55:26.760348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:55:05.154348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:54:47.115093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5RAP2 were set to ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:54:28.974580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:54:09.092874+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5RAP2 were set to ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:53:55.714258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:53:49.247667+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5RAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-03-09T20:53:29.375666+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
}
]
}