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{
"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1003",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1001",
"results": [
{
"created": "2022-02-08T20:52:35.606300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:52:14.328935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP2 were changed from SPEECH-LANGUAGE DISORDER 1 to Speech-language disorder-1, MIM# 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:52:00.448887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP2 were set to ",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:45.580458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:35.411671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP2 as Red List (low evidence)",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:35.401151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:23.144560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association but typically presents post-natally.",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:10.753825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXP2: Changed rating: RED",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:50:00.737948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:50:00.726708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:49:52.567161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:49:23.849556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIG4 were set to ",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:49:05.418905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIG4 as Green List (high evidence)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:49:05.406708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:48:30.526379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCM as ready",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:48:30.513091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Red List (Low Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:48:26.619572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCM were changed from FANCONI ANEMIA; FANCM-RELATED FANCONI ANEMIA to Fanconi anaemia",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:48:06.921347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCM as Red List (low evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:48:06.910152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Red List (Low Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:47:41.668044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCL as ready",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:47:41.656868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancl has been classified as Green List (High Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:47:37.100507+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCL were set to ",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:47:24.503420+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCL as Green List (high evidence)",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:47:24.492530+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancl has been classified as Green List (High Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:45:30.872717+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THUMPD1 as ready",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:45:30.862935+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:45:24.975445+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:59.992058+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THUMPD1 as Green List (high evidence)",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:59.981449+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:45.525131+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:36.380527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THUMPD1 as ready",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:36.370761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:32.167119+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:00.682868+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THUMPD1 as Green List (high evidence)",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:44:00.671584+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:43:20.700904+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THUMPD1 as ready",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:43:20.691391+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:43:18.580885+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:42:50.507421+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THUMPD1 as Green List (high evidence)",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:42:50.495052+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:42:15.538330+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THUMPD1 as ready",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:42:15.522522+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:42:12.995308+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:41:43.822084+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THUMPD1 as Green List (high evidence)",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:41:43.813063+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:39:13.954037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THUMPD1 as ready",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:39:13.938771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:35:39.967116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:35:16.004886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THUMPD1 as Green List (high evidence)",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:35:15.993577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thumpd1 has been classified as Green List (High Evidence).",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:33:32.153585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B2 as ready",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:33:32.144514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b2 has been classified as Green List (High Evidence).",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:33:25.726896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B2 as Green List (high evidence)",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:33:25.715543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b2 has been classified as Green List (High Evidence).",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:32:57.263031+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:32:57.252463+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Red List (Low Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:32:53.730109+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from to Colitis",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:32:04.808833+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:31:35.730914+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:31:03.733055+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTEN as Red List (low evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:31:03.723569+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Red List (Low Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:29:55.718496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT9 as ready",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:29:55.708910+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept9 has been classified as Red List (Low Evidence).",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:29:44.545795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPT9 as Red List (low evidence)",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:29:44.528229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept9 has been classified as Red List (Low Evidence).",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:29:29.635059+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:28:50.257748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCH1 as ready",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:28:50.245431+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:28:44.079847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCH1 as Amber List (moderate evidence)",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:28:44.062958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:55.300401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHA5 as ready",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:55.291188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:46.382709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHA5 as Amber List (moderate evidence)",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:46.367992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:18.976636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHA7 as ready",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:18.964712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:09.606694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHA7 as Amber List (moderate evidence)",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:27:09.593772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:26:26.268430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R13L as ready",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:26:26.256906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r13l has been classified as Green List (High Evidence).",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:26:14.779798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R13L as Green List (high evidence)",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:26:14.767621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r13l has been classified as Green List (High Evidence).",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:25:37.083638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: METTL23 as ready",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:25:37.073819+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mettl23 has been classified as Red List (Low Evidence).",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:25:31.261582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: METTL23 as Red List (low evidence)",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:25:31.250260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mettl23 has been classified as Red List (Low Evidence).",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:24:32.655831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRC32 as ready",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:24:32.644281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:24:24.981195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRC32 as Amber List (moderate evidence)",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:24:24.972270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:23:54.029056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:23:54.018185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Red List (Low Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:23:50.532729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA to Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive; Myoclonus, familial, 2, MIM# 618364; paroxysmal kinesigenic dyskinesias; Cognitive impairment with or without cerebellar ataxia, MIM# 614306",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:23:11.397468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFWD3 as ready",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:23:11.382285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:23:07.801344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFWD3 were changed from ?Fanconi anemia, complementation group W, OMIM:617784 to Fanconi anaemia, complementation group W, OMIM:617784",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-02-08T14:52:27.287035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10938",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T14:52:21.861204+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4495",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T14:52:17.976055+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.114",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other",
"entity_name": "THUMPD1",
"entity_type": "gene"
},
{
"created": "2022-02-08T14:52:13.654570+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.102",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other; to: Broly, M. et al. (2022), AJHG: \r\n- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del). \r\n- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities. \r\nSources: Other",
"entity_name": "THUMPD1",
"entity_type": "gene"
}
]
}