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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1067",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1065",
"results": [
{
"created": "2021-12-31T15:30:58.262044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX10 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:30:43.268682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX10 were set to ",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:30:31.740724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX10 as Amber List (moderate evidence)",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:30:31.730734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:30:14.591491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.; to: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.\r\n\r\nAt least one individual reported with severe HCM in neonatal period.",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:29:51.250137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX10: Changed rating: AMBER",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:28:33.827574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1713",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COQ8A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:27:17.044623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1712",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COQ2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:25:20.230464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:24:54.045376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1711",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COMP from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:24:03.823569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1710",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL9A3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:23:27.421019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1709",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL5A2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:23:09.646816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL5A1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:19:04.155618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1707",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL4A4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:18:46.035130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1706",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL4A3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:18:29.836583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1705",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:COL25A1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:18:09.797410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CHRNA4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:17:30.653683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLTC as ready",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:17:30.642770+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Green List (High Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:17:25.622017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLTC were changed from Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia to Mental retardation, autosomal dominant 56, MIM# 617854",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:17:02.006604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLTC were set to 33743358",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:16:26.221492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLTC as Green List (high evidence)",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:16:26.201449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cltc has been classified as Green List (High Evidence).",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:16:13.812742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLTC: Added comment: PMID 34230591: review of previously reported cases and report of 3 new cases, including one with prenatally ascertained brain and renal abnormalities.; Changed rating: GREEN; Changed publications: 29100083, 26822784, 34230591",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:13:58.411772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CHRNB2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:13:40.496826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1699",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CLN8 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:13:10.272850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1698",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CLN6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:12:45.484362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1697",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CLN5 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:11:56.622484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1696",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CLN3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:10:49.244590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1695",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CLDN19 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:09:49.784599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1694",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CISD2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:09:19.141462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Neurodegenerative disorder with hearing and visual impairment, but intellectual disability is not a feature.; to: Neurodegenerative disorder with hearing and visual impairment.",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:08:54.104356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1693",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CIB2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T15:08:13.388054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA4 as ready",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:08:13.377714+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna4 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:08:09.533895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA4 were changed from NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:07:56.386759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA4 were set to ",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:07:44.203315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:07:31.248224+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID only reported in one family with this condition.; to: Post-natal onset.",
"entity_name": "CHRNA4",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:06:28.285960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRDL1 as ready",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:06:28.274655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrdl1 has been classified as Red List (Low Evidence).",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:06:12.261223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRDL1 were changed from MEGALOCORNEA, X-LINKED to Megalocornea 1, X-linked, MIM# 309300",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:05:56.055078+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRDL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalocornea 1, X-linked, MIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:58:35.296314+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TECRL were set to 17666061; 27861123; 30790670",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:57:59.151148+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33367594; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:57:15.396600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TECRL as ready",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:57:15.387444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecrl has been classified as Green List (High Evidence).",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:57:04.825398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TECRL as Green List (high evidence)",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:57:04.814756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecrl has been classified as Green List (High Evidence).",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T14:56:46.956612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TECRL was added\ngene: TECRL was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECRL were set to 17666061; 27861123; 30790670; 33367594\nPhenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021\nReview for gene: TECRL was set to GREEN\nAdded comment: DEFINITIVE by ClinGen\r\nHomozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence. \r\n- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)\r\n- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)\r\n- 30790670 reported in a single family with one child with features of CPVT\r\n-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594 \nSources: Expert Review",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2021-12-31T12:14:09.038676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10426",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2021-12-31T11:59:08.535255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Post-natal onset.; to: Post-natal onset for DDE.\r\n\r\nAssociation with ARVC rated LIMITED by ClinGen.",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-12-31T11:58:17.675067+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD2 as ready",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-12-31T11:58:17.662500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Red List (Low Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-12-31T11:58:13.890580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 94, MIM# 615369",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-12-31T11:57:59.707211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-12-31T11:57:46.073999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:53:59.155863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCNO as ready",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:53:59.144699+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccno has been classified as Red List (Low Evidence).",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:53:53.789834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCNO were changed from CILIARY DYSKINESIA, PRIMARY, 29 to Ciliary dyskinesia, primary, 29 615872",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:53:39.970585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCNO were set to 30166424",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:52:47.567253+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC65 as Red List (low evidence)",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:52:47.556298+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:52:24.312313+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.\r\n\r\nSitus inversus not reported.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:52:14.432571+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC65: Changed rating: RED",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:51:45.755319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC65 as ready",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:51:45.743855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc65 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:51:41.427840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC65 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 27, MIM# 615504",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:51:28.457290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC65 were set to 30166424",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:51:12.976339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.\r\n\r\nSitus inversus not reported.",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:51:01.465856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC65: Changed rating: RED",
"entity_name": "CCDC65",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:49:56.991495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC115 as ready",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:49:56.972920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:49:48.694377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC115 were changed from to Congenital disorder of glycosylation, type IIo (MIM# 616828)",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:49:25.143532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC115 were set to ",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:49:04.313407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC115 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:48:03.697223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:47:20.614729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC115 as ready",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:47:20.602837+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:47:09.395896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC115 were changed from Disorder of Golgi homeostasis to Congenital disorder of glycosylation, type IIo, MIM# 616828",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:45:53.839665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC115 were set to ",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:45:39.514957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC115: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIo, MIM# 616828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:44:06.228551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D1A as ready",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:44:06.217732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d1a has been classified as Red List (Low Evidence).",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:43:59.760647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Mental retardation, autosomal recessive 3, MIM# 608443",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:43:47.026655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D1A were set to ",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:43:22.711763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:41:48.787277+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:41:48.776843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Red List (Low Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:41:42.294273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBS were changed from CYSTATHIONINE BETA-SYNTHASE DEFICIENCY to Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:41:26.766264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:40:01.906804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAVIN1 as ready",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:40:01.894748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cavin1 has been classified as Red List (Low Evidence).",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:39:55.445717+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 613327 to Lipodystrophy, congenital generalized, type 4 , MIM# 613327",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:39:40.165623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:37:09.567450+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALCRL as ready",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:37:09.557178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calcrl has been classified as Red List (Low Evidence).",
"entity_name": "CALCRL",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:36:16.146540+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAD as ready",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:36:16.135338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cad has been classified as Red List (Low Evidence).",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:36:12.572224+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAD were changed from Uridine-responsive epileptic encephalopathy to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457",
"entity_name": "CAD",
"entity_type": "gene"
}
]
}