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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1089",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1087",
"results": [
{
"created": "2021-12-10T16:04:35.210111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP135 were set to ",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:04:23.829184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP135 as Green List (high evidence)",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:04:23.819359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep135 has been classified as Green List (High Evidence).",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:04:11.247840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CEP135: At least 3 families reported.",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:04:00.284860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CEP135: Changed publications: 30214071, 22521416, 26657937",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:02:41.004183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:02:40.993047+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Green List (High Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:02:37.334541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, MIM#243605",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:02:27.749648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPF were set to 25564561; PMID: 26820108",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:00:17.515873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CENPF as Green List (high evidence)",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:00:17.502754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Green List (High Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T16:00:04.837919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: 25564561, 28407396, 26820108; Phenotypes: Stromme syndrome (MIM#243605); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:58:28.654730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELSR1 as ready",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:58:28.645264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr1 has been classified as Red List (Low Evidence).",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:58:22.767477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319 to Lymphatic malformation 9, MIM# 619319",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:58:09.785666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CELSR1 were set to ",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:57:58.152674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CELSR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:57:49.278606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELSR1 as Red List (low evidence)",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:57:49.268808+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr1 has been classified as Red List (Low Evidence).",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:57:36.536828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: 31215153, 31403174, 26855770; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:46:06.727975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:46:06.717091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1189",
"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": "2021-12-10T15:45:59.038098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5RAP2 were set to ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:45:45.929632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5RAP2 as Green List (high evidence)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:45:45.919308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1188",
"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": "2021-12-10T15:45:00.753015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD96 as ready",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:45:00.739667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd96 has been classified as Red List (Low Evidence).",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:44:51.196166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD96 were changed from C SYNDROME to C syndrome, MIM#211750",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:44:38.051867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD96 were set to ",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:44:27.236575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD96 as Red List (low evidence)",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:44:27.226648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd96 has been classified as Red List (Low Evidence).",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:44:15.811498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD96: Changed rating: RED",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:43:57.534403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD96 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:43:45.199039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is part of the phenotype. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.; to: The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.\r\n\r\nHowever, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:43:32.387205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD96: Changed rating: AMBER",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:43:13.056821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD96: Changed rating: GREEN",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:42:26.363613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD151 as ready",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:42:26.354724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd151 has been classified as Red List (Low Evidence).",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:42:18.655492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD151 were changed from NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:42:06.847005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD151 were set to ",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:41:44.851035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD151 as Red List (low evidence)",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:41:44.840538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd151 has been classified as Red List (Low Evidence).",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:41:30.804846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD151: Rating: RED; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:41:16.285778+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD151: Changed rating: GREEN",
"entity_name": "CD151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:39:44.372921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88C as ready",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:39:44.362468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:39:32.726427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC88C were set to ",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:39:18.411939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88C as Green List (high evidence)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:39:18.400945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:38:35.087611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC8 as ready",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:38:35.076943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc8 has been classified as Green List (High Evidence).",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:38:24.929941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC8 were set to ",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:37:51.457658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC8 as Green List (high evidence)",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:37:51.447732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc8 has been classified as Green List (High Evidence).",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:37:40.295077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellect typically normal; to: 5 unrelated individuals described with the condition; two different homozygous variants described in three individuals. IUGR.",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:37:22.151466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC8: Changed rating: GREEN",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:36:07.294714+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC78 as ready",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:36:07.284404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc78 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:36:03.604009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC78 were changed from CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES to Centronuclear myopathy 4, MIM#614807",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:35:51.073995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC78 were set to ",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:35:38.033188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC78 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:35:20.516460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC78 as Red List (low evidence)",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:35:20.505197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc78 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:35:08.750890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported in the literature only. Mild intellectual disability was part of the phenotype.; to: Single family reported in the literature only. Onset in early childhood.",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:34:53.260333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC78: Changed rating: RED",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:34:24.592307+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC22 as ready",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:34:24.580106+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Green List (High Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:34:18.834329+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC22 as Green List (high evidence)",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:34:18.825193+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Green List (High Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:33:45.839546+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC22 was added\ngene: CCDC22 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CCDC22 were set to 21826058; 24916641; 34020006; 33059814; 31971710\nPhenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM# 300963\nReview for gene: CCDC22 was set to GREEN\nAdded comment: Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. At least 5 unrelated families reported. \nSources: Expert Review",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:30:21.332146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC22 as ready",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:30:21.322106+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Green List (High Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:30:16.551677+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:29:48.825439+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC22 were set to ",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:29:14.808914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:28:41.655943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:27:59.462853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC22 as ready",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:27:59.452372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Green List (High Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:27:52.099416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:27:34.559434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC22 were set to ",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:26:23.699399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:26:04.320500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:25:15.937030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC22 as ready",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:25:15.920905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Green List (High Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:25:08.857761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, MIM# 300963",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:24:57.445538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC22 were set to ",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:24:39.126291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC22 as Green List (high evidence)",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:24:39.114978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc22 has been classified as Green List (High Evidence).",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:24:28.458694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC22: Changed rating: GREEN",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:24:21.669004+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC22: Rating: ; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:19:36.276347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC151 as ready",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:19:36.264036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc151 has been classified as Green List (High Evidence).",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:19:28.393563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC151 were set to ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:19:14.755309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC151 as Green List (high evidence)",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:19:14.743325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc151 has been classified as Green List (High Evidence).",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:18:34.011982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:18:34.001343+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casr has been classified as Red List (Low Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:18:30.363381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200 to Hyperparathyroidism, neonatal, MIM# 239200",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:18:14.633303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASR as Red List (low evidence)",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:18:14.623337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casr has been classified as Red List (Low Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
}
]
}