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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1086",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1084",
"results": [
{
"created": "2021-12-13T17:01:04.172021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:00:52.127407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-12-13T17:00:31.901951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1276",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 25149867, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:59:57.210241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXRED1 as ready",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:59:57.200851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxred1 has been classified as Green List (High Evidence).",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:59:54.518083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALE were set to ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:59:38.323016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:59:15.166296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXRED1 were set to ",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:58:54.354044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:58:09.694239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FREM2 as ready",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:58:09.684985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem2 has been classified as Green List (High Evidence).",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:57:58.559655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FREM2 were changed from to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:57:37.000417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FREM2 were set to ",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:57:14.938853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:56:37.774256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FREM2 as ready",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:56:37.763895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem2 has been classified as Green List (High Evidence).",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:56:33.861286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FREM2 were changed from FRASER SYNDROME to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:56:19.965096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FREM2 were set to ",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:55:19.952142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:55:19.939071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:55:14.166657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from GLYCOGEN STORAGE DISEASE TYPE II to Glycogen storage disease II MIM#232300",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:54:47.402149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1273",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661080, 21108394; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:54:09.261618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPR2 as ready",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:54:09.252184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npr2 has been classified as Green List (High Evidence).",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:54:04.412138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:53:51.208411+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPR2 were set to ",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:53:38.446928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NPR2 was changed from to Other",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:53:28.587356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:53:09.680848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:52:34.687114+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:52:11.813753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:47.662897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALK1 were set to ",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:44.356402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALE as ready",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:44.338744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:36.145068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALE were changed from EPIMERASE-DEFICIENCY GALACTOSEMIA to Galactose epimerase deficiency MIM#230350",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:24.325145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALE were set to ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:21.271532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10213",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516 20456449 9443879 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:51:10.586454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:50:05.296260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALK1 as ready",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:50:05.284209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galk1 has been classified as Green List (High Evidence).",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:50:01.240031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALK1 were changed from GALACTOSEMIA II to Galactokinase deficiency with cataracts MIM#230200",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:49:56.585551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1265",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: GALK1: Changed rating: GREEN",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:49:49.286048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALK1 were set to ",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:49:44.369016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: There is no structural changes that can be identified in a neonate with this condition; to: Cataracts' visible on ultrasound",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:49:33.530353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:49:27.675826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1264",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516, 20456449, 9443879, 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:48:44.320309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNS as ready",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:48:44.307536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galns has been classified as Green List (High Evidence).",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:48:38.658332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 4A to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:48:27.270552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALNS were set to ",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:48:14.486288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:44:59.858295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA4 as ready",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:44:59.845070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Green List (High Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:44:55.941358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from ATRIAL SEPTAL DEFECT TYPE 2 to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:44:43.106678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA4 were set to ",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:44:30.303646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:43:59.935656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA4 as ready",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:43:59.925299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata4 has been classified as Green List (High Evidence).",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:43:49.595479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA4 were changed from to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:43:27.343174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA4 were set to ",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:43:03.117021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:42:17.887875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHS1 as ready",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:42:17.876569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphs1 has been classified as Green List (High Evidence).",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:42:13.269783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHS1 were changed from NEPHROTIC SYNDROME TYPE 1 to Nephrotic syndrome, type 1 (MIM#256300)",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:42:00.593663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHS1 were set to ",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:41:42.380525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10209",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:NPC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-13T16:40:20.695063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:40:20.683437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:40:16.425275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC1 were changed from NIEMANN-PICK DISEASE, TYPE C1 to Niemann-Pick disease, type C1/ type D (MIM#257220)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:40:02.664638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC1 were set to ",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:39:22.543580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:39:22.533475+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:39:18.339216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH2 were changed from HAJDU-CHENEY SYNDROME to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:39:05.288212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH2 were set to ",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:38:51.555325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:37:50.122756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:37:50.107304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:37:45.669825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH1 were changed from ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION to Adams-Oliver syndrome 5 (MIM#616028)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:37:32.159954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH1 were set to ",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:37:20.859832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:52.473480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOG as ready",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:52.461639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nog has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:48.521368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:30.315029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOG were set to ",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:13.650183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:02.360920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOG as Amber List (moderate evidence)",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:36:02.346279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nog has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:34:57.396553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX3-2 as ready",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:34:57.387219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx3-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:34:53.533010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX3-2 were changed from SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:34:41.834139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX3-2 were set to ",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:34:03.105240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCDH as ready",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:34:03.093391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:33:58.515083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCDH were changed from GLUTARICACIDEMIA TYPE 1 to Glutaric aciduria, type I MIM#231670",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:33:42.879738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GCDH were set to ",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:33:08.625091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COMT as ready",
"entity_name": "COMT",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:33:08.611165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: comt has been classified as Red List (Low Evidence).",
"entity_name": "COMT",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:32:57.121999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COMT as Red List (low evidence)",
"entity_name": "COMT",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:32:57.112315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: comt has been classified as Red List (Low Evidence).",
"entity_name": "COMT",
"entity_type": "gene"
},
{
"created": "2021-12-13T16:13:08.045990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAT4",
"entity_type": "gene"
}
]
}