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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1036",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1034",
"results": [
{
"created": "2022-01-20T20:20:56.064920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:20:43.574924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCC were set to ",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:20:14.982484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:19:32.535131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAC3 as ready",
"entity_name": "TAC3",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:19:32.519212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tac3 has been classified as Red List (Low Evidence).",
"entity_name": "TAC3",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:19:23.656748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAC3 were changed from HYPOGONADOTROPIC HYPOGONADISM to Hypogonadotropic hypogonadism 10 with or without anosmia\t, MIM#614839",
"entity_name": "TAC3",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:18:12.852194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF13B as ready",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:18:12.840483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf13b has been classified as Red List (Low Evidence).",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:18:08.463772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFRSF13B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:17:56.681319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF13B were changed from IMMUNODEFICIENCY, COMMON VARIABLE, 2 to Immunodeficiency, common variable, 2, MIM#\t240500",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:17:02.686371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NXN as ready",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:17:02.674777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxn has been classified as Green List (High Evidence).",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:16:53.009150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NXN were set to ",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:16:14.685956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX10 as ready",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:16:14.676635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx10 has been classified as Green List (High Evidence).",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:10:55.980917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX10 were changed from to Osteopetrosis, autosomal recessive 8, MIM# 615085",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:10:36.208773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNX10 were set to ",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:10:15.474948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:09:57.446378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499339, 23123320, 33678645, 32278070, 30977576, 30898715; Phenotypes: Osteopetrosis, autosomal recessive 8, MIM# 615085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:07:48.396928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX10 as ready",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:07:48.385609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx10 has been classified as Red List (Low Evidence).",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:06:35.961398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:06:35.950446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:06:29.872623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX11 were changed from to Coffin-Siris syndrome 9, OMIM # 615866",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:06:05.202105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX11 were set to 24886874; 33785884; 33430815; 33086258; 31530938",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:05:49.829171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX11 were set to ",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:02:31.712970+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:01:36.558012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:01:36.545687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:01:32.790354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX11 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Coffin-Siris syndrome 9, OMIM # 615866",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:01:20.125970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX11 were set to ",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T20:00:27.504921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:59:47.378842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEOX1 as ready",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:59:47.367380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meox1 has been classified as Green List (High Evidence).",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:59:39.514820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEOX1 were changed from to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:59:17.216587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEOX1 were set to ",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:58:49.363377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:58:02.960437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM:214300, Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:57:03.909903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEOX1 as ready",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:57:03.886482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meox1 has been classified as Green List (High Evidence).",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T19:56:44.887151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEOX1 were set to ",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:59:08.437617+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD6B as ready",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:59:08.426696+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud6b has been classified as Green List (High Evidence).",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:59:04.752697+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD6B were changed from Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:58:52.285555+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD6B were set to ",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:57:49.361577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD6B as ready",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:57:49.351618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud6b has been classified as Green List (High Evidence).",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:57:41.233087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:57:21.252498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD6B were set to ",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:57:03.141577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:56:44.923742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since. Suitable for fetal anomalies panel.; to: IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since. ",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:56:34.910801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:55:32.777107+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD6B as ready",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:55:32.765346+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud6b has been classified as Green List (High Evidence).",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:55:28.632718+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:55:02.381732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD6B were set to ",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:54:27.583455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:53:36.357136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCG as ready",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:53:36.345408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgcg has been classified as Red List (Low Evidence).",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:53:11.590537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A17 as ready",
"entity_name": "SLC6A17",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:53:11.576797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a17 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A17",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:53:07.780308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A17 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 to Mental retardation, autosomal recessive 48, MIM#\t616269",
"entity_name": "SLC6A17",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:51:49.426950+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB33B as ready",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:51:49.415799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab33b has been classified as Red List (Low Evidence).",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:50:23.882609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINH1 as ready",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:50:23.872271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinh1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:50:15.506781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINH1 were changed from to Osteogenesis imperfecta, type X, MIM# 613848; Osteogenesis imperfecta type 10, MONDO:0013459",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:49:51.302597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINH1 were set to ",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:49:29.184652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:49:10.451275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:46:43.550867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINH1 as ready",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:46:43.538563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinh1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:46:38.191964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINH1 were set to ",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:46:26.788993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPINH1 as Green List (high evidence)",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:46:26.779909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinh1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:46:15.471047+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:44:49.149103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINF1 as ready",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:44:49.137039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinf1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:44:39.668590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINF1 were changed from to Osteogenesis imperfecta, type VI, MIM# 613982",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:44:10.356619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINF1 were set to ",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:43:49.490977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:43:31.505067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SERPINF1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:43:08.312334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982; Mode of inheritance: None",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:40:51.638422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINF1 as ready",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:40:51.616625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinf1 has been classified as Red List (Low Evidence).",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:39:39.556427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:39:39.539778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:39:33.554646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to Wiedemann-Rautenstrauch syndrome, MIM# 264090",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:39:14.297227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR3A were set to ",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:39:01.873916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3A as Green List (high evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:39:01.854782+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:38:47.955860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30323018; Phenotypes: Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:36:06.720514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:36:06.707640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Red List (Low Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:35:41.829515+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR2 as ready",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:35:41.818603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr2 has been classified as Red List (Low Evidence).",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:35:38.386582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYCR2 were changed from POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME to Leukodystrophy, hypomyelinating, 10, MIM#\t616420",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:33:58.985470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX1 as ready",
"entity_name": "PITX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:33:58.972662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx1 has been classified as Green List (High Evidence).",
"entity_name": "PITX1",
"entity_type": "gene"
},
{
"created": "2022-01-20T18:33:47.403408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX1 were changed from to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800",
"entity_name": "PITX1",
"entity_type": "gene"
}
]
}