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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1054",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1052",
"results": [
{
"created": "2022-01-12T20:32:56.032832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH1 were changed from Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 to Ollier disease MONDO:0008145; Maffucci syndrome MONDO:0013808",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:32:35.112341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IDH1 were set to 22057234; 22057236; 22025298; 24049096",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:32:01.496061+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:31:50.608818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDH1 as Red List (low evidence)",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:31:50.599260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh1 has been classified as Red List (Low Evidence).",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:29:29.656054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH1 as ready",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:29:29.642891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh1 has been classified as Green List (High Evidence).",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:29:21.299222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH1 were changed from Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808 to Ollier disease MONDO:0008145; Maffucci syndrome MONDO:0013808",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:29:00.568470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH1 were changed from to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:27:43.743813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IDH1 were set to ",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:27:24.269087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDH1 was changed from Unknown to Other",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T20:27:06.954943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: IDH1.",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:26:27.276071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPD as ready",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:26:27.266376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpd has been classified as Red List (Low Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:26:22.970966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPD were changed from TYROSINEMIA TYPE 3; HAWKINSINURIA to Hawkinsinuria (MIM#140350), AD; Tyrosinemia type III (MIM#276710), AR",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:26:04.793222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPD were set to ",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:25:47.423192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPD 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": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:25:33.475231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPD as Red List (low evidence)",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:25:33.466268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpd has been classified as Red List (Low Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:25:19.613729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:23:06.831421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPH2 as ready",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:23:06.817928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph2 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:23:02.384825+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:22:27.397853+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPH2 were set to ",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:21:52.685543+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:21:18.315933+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:20:42.995791+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPH2 as ready",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:20:42.983838+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph2 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:20:08.269351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:19:31.263158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPH2 were set to ",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:18:52.837210+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:18:00.298379+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:16:48.180362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPH2 as ready",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:16:48.168682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph2 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:16:40.982387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:16:22.820676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPH2 were set to ",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:15:59.759428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:15:25.356429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPH2 as ready",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:15:25.345715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph2 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:15:21.645868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPH2 were changed from Neurodevelopmental Disorder in Females to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:14:51.469940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPH2 were set to ",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:14:35.380715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPH2 as Green List (high evidence)",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:14:35.367443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnph2 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPH2",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:14:00.679749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT1 as ready",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:14:00.669115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:13:56.810064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNT1 were changed from SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY to Epilepsy, nocturnal frontal lobe, 5 (MIM#615005); Epileptic encephalopathy, early infantile, 14 (MIM#614959)",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:13:44.438366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNT1 were set to ",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:13:23.596397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT1 as ready",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:13:23.586015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt1 has been classified as Green List (High Evidence).",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:13:15.506744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNT1 were changed from to Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Epileptic encephalopathy, early infantile, 14, MIM# 614959",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:12:55.804266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNT1 were set to ",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:12:36.779852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:12:17.704983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23086397, 23086396, 31872048, 31532509; Phenotypes: Epilepsy, nocturnal frontal lobe, 5, MIM# 615005, Epileptic encephalopathy, early infantile, 14, MIM# 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:12:08.711874+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:12:00.538113+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: KCNT1: Multiple families reported.",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T18:11:03.290088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-01-12T17:47:17.215184+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4429",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546; 34980503\nPhenotypes for gene: TCTN1 were set to Joubert syndrome 13, MIM# 614173; MONDO:0013608\nPenetrance for gene: TCTN1 were set to Complete\nReview for gene: TCTN1 was set to GREEN\ngene: TCTN1 was marked as current diagnostic\nAdded comment: Rare cause of JBS, at least 6 families reported, mouse model.\r\n\r\nID/developmental delay described in at least 3 of them \nSources: Literature",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2022-01-12T17:34:00.916489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Currently no mendelian gene-disease assocation. Best known for polymorphisms associated with Kawasaki disease susceptibility.\r\n\r\nKO mouse models looking at protein expression and effect on multiciliary beating frequency and spermatozoa, no significant defects in both; to: Currently no mendelian gene-disease association. Best known for polymorphisms associated with Kawasaki disease susceptibility.\r\n\r\nKO mouse models looking at tissue protein expression and effect on multiciliary beating frequency and spermatozoa, no significant defects in both",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-12T17:33:44.391651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ITPKC: Rating: RED; Mode of pathogenicity: None; Publications: 32283413, 29098351, 27036498; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "ITPKC",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:31:47.006803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:31:46.994581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:31:27.860624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ2 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1 to Developmental and epileptic encephalopathy 7 (MIM#613720); Myokymia (MIM#121200); Seizures, benign neonatal, 1 (MIM#121200)",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:31:15.206467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ2 were set to 30712880",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:30:52.039760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:30:15.225466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGA2 as ready",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:30:15.215497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmga2 has been classified as Green List (High Evidence).",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:30:05.405800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGA2 were set to 28796236; 29655892; 29453418; 25809938",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:29:51.207865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:29:39.764583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HMGA2.",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:29:32.037050+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGA2 as Green List (high evidence)",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:29:32.022610+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmga2 has been classified as Green List (High Evidence).",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:28:26.747469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:28:26.730183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:28:21.999248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from FAMILIAL HYPERINSULINISM; DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL to Diabetes mellitus, transient neonatal 3 (MIM#610582); Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856)",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:28:08.960127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ11 were set to ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:27:54.580363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ11 as Amber List (moderate evidence)",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:27:54.564780+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-01-12T15:25:08.600588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2022-01-12T11:04:15.718340+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.234",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26815876, PMID: 31555317, PMID: 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:14:25.845912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:13:43.295025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 33057194",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:12:53.514776+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:11:42.838355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:11:17.128945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1B",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:03:20.214764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA10 as ready",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:03:20.204064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Green List (High Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:03:15.702704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from X-linked anophthalmia syndrome/Lenz; X-linked anophthalmia syndrome; NONPECIFIC SEVERE ID; OGDEN SYNDROME to Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:02:57.490894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to ",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:02:44.209106+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA10: Added comment: For Ogden association, PMID 34075687: \r\nlethal X-linked. 9 males from 3 families with recurrent Ser37Pro\r\nAll presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias\r\n\r\nFor non-lethal syndromic ID:\r\nreported in 10 males and (mostly de novo) in 37 females\r\nvariants causing this are missense located along the protein and 1 truncating; Changed publications: 30842225, 24431331, 34075687; Changed phenotypes: Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:01:10.905111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: NAA10.",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:01:01.841299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T18:00:31.933505+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to ",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T17:58:06.470608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T17:57:31.619204+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 34075687, 21700266; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800, Ogden syndrome MIM#300855; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T17:33:35.903947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1\t309800 to Microphthalmia, syndromic 1, MIM#\t309800; Ogden syndrome MIM#300855",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T12:34:43.901507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to 30842225",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-01-11T12:32:27.870273+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOPORS as ready",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2022-01-11T12:32:27.859584+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2022-01-11T12:32:23.840745+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOPORS as Amber List (moderate evidence)",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2022-01-11T12:32:23.830352+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
}
]
}