HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1092",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1090",
"results": [
{
"created": "2021-12-08T19:12:38.336906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1G as ready",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:12:38.318123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1g has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:12:28.658315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1G were set to ",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:12:15.598253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CACNA1G was changed from to Other",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:12:04.285410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1G was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:11:47.375030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNA1G: Added comment: Microcephaly in some.; Changed rating: AMBER",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:08:36.623899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1D as ready",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:08:36.613779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Green List (High Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:08:31.224088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:08:11.232628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1D were set to ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:07:57.025832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CACNA1D was changed from to Other",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:07:44.991818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:07:32.788960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1D as Green List (high evidence)",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:07:32.767390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Green List (High Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T19:07:20.070353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions.; to: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions, cardiac defects and cardiomyopathy.",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:58:37.322575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:58:37.313003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:58:32.255082+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from EPILEPTIC ENCEPHALOPATHY to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:54:39.949023+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:54:28.324383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Red List (low evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:54:28.314891+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:54:14.162058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:50:31.466823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:50:31.456894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Red List (Low Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:50:26.806817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA5A were changed from HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:50:06.095871+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA5A were set to ",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:49:51.802437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA5A as Red List (low evidence)",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:49:51.791768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Red List (Low Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:49:36.338383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Episodic metabolic decompensation rather than true ID, majority have had normal neurological outcome with appropriate treatment of acute crises.; to: Episodic metabolic decompensation, majority have had normal neurological outcome with appropriate treatment of acute crises.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:45:12.452663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD3 as ready",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:45:12.441211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:45:08.378548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413 to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:44:53.195854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C2CD3 were set to ",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:44:38.252823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C2CD3 as Green List (high evidence)",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:44:38.242541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:59.493834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:27.356627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C21orf59 as ready",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:27.346966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf59 has been classified as Green List (High Evidence).",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:23.695573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C21orf59 were set to ",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:12.420343+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C21orf59 as Green List (high evidence)",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:12.409802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c21orf59 has been classified as Green List (High Evidence).",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:43:02.538466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C21orf59.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:42:53.036807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population; to: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population.\r\n\r\nLaterality defects in about half.",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:31:36.393039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QBP as ready",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:31:36.383689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:31:26.822100+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:31:02.874875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QBP were set to ",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:30:46.652727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:30:27.709476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:30:02.678104+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QBP as ready",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:30:02.630830+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:29:55.124700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QBP were changed from Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:29:52.448676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:29:25.772749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QBP were set to ",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:29:02.985827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1QBP as Green List (high evidence)",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:29:02.975092+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qbp has been classified as Green List (High Evidence).",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T18:28:51.118749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:04:18.304213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf57 as ready",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:04:18.293738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:04:14.220629+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, MIM#218340",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:04:01.732226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C12orf57 as Green List (high evidence)",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:04:01.719486+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf57 has been classified as Green List (High Evidence).",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2021-12-08T11:03:10.321756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ocular coloboma is part of the phenotype. \nSources: Expert list; to: Talipes and hip dislocation are part of the phenotype.\r\nSources: Expert list",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:45:20.246777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BPTF as ready",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:45:20.235581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bptf has been classified as Amber List (Moderate Evidence).",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:45:11.174220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BPTF were changed from Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:44:50.329481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BPTF were set to ",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:44:24.363987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BPTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:44:08.951038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.; to: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.\r\n\r\nThe onset of microcephaly is post-natal, most of the other physical features are relatively mild, unclear if would be identifiable antenatally.",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:43:16.608700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BPTF: Changed rating: AMBER",
"entity_name": "BPTF",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:41:57.360777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOLA3 as ready",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:41:57.352053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bola3 has been classified as Green List (High Evidence).",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:41:46.244209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:41:21.459935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BOLA3 were set to ",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:40:56.961911+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:40:38.611374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:39:37.703563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOLA3 as ready",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:39:37.694299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bola3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:39:33.168779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:39:12.925915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BOLA3 were set to ",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T20:38:53.096526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:07:37.282336+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BNC2 as ready",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:07:37.272412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bnc2 has been classified as Green List (High Evidence).",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:07:33.627869+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BNC2 were changed from Lower urinary tract obstruction, congenital, 618612 to Lower urinary tract obstruction, congenital, MIM #618612",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:07:10.891354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BNC2 were set to ",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:06:59.638188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BNC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:06:49.832634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BNC2 as Green List (high evidence)",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:06:49.822076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bnc2 has been classified as Green List (High Evidence).",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T09:06:37.225346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656805, 31051115; Phenotypes: Lower urinary tract obstruction, congenital, MIM #618612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:59:28.402024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S6 as ready",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:59:28.393589+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Red List (Low Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:59:24.244340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S6 were changed from HERMANSKY-PUDLAK SYNDROME 9 to Hermansky-Pudlak syndrome 9, MIM# 614171",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:59:11.446355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to ",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:58:59.090612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Red List (low evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:58:59.080707+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Red List (Low Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:58:47.161153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.\r\n\r\nPresentation for HPS in general is post-natal.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.\r\n\r\nPresentation of HPS in general is post-natal.",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:58:39.793895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: None",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:56:57.714242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL9L as ready",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:56:57.704368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl9l has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:56:45.564328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCL9L were changed from Heterotaxy to Heterotaxy; Congenital Heart Disease",
"entity_name": "BCL9L",
"entity_type": "gene"
}
]
}