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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1109",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1107",
"results": [
{
"created": "2021-11-30T18:21:20.495351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 4 families reported where contractures are a feature of the condition. \nSources: Expert list; to: At least 4 families reported where contractures are a feature of the condition. Other congenital anomalies reported as well.\r\n\r\nSources: Expert list",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:19:40.416627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX11 as ready",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:19:40.399824+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:19:36.627799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX11 were changed from WARSAW BREAKAGE SYNDROME to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:19:18.116957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX11 were set to ",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:17:59.608192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:17:59.598006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:17:52.510982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:17:22.950091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMD were set to ",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:17:00.134611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:16:25.444602+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:16:25.434497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Red List (Low Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:16:19.328332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMD were set to 26247046",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:16:01.633149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMD as Red List (low evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:16:01.622259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Red List (Low Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:13:01.423045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:49:01.837902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP13 as ready",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:49:01.826086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:48:58.215835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP13 were changed from Mosaic Variegated Aneuploidy and Wilms Tumour to Mosaic variegated aneuploidy syndrome 3, MIM# 617598",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:48:48.225533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP13 were set to ",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:48:15.565823+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TRIP13.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:48:04.114318+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Green List (high evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:48:04.103461+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Green List (High Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:47:54.236130+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.\r\n\r\n6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. \nSources: Expert Review; to: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.\r\n\r\n6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect.\r\n\r\nSupportive functional data.\r\nSources: Expert Review",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:47:45.244796+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIP13: Changed rating: GREEN",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:46:53.765919+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Green List (high evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:46:53.754742+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Green List (High Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:46:29.243324+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.\r\n\r\n6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Microcephaly present in 3/6.; to: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.\r\n\r\n6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Microcephaly present in 3/6.\r\n\r\nSupportive functional data.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:46:11.202495+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIP13: Changed rating: GREEN",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:45:56.809524+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTPAP were changed from Spastic ataxia 4, autosomal recessive 613672 to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:45:25.404297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:45:12.073116+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MTPAP.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:44:15.256605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTPAP as ready",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:44:15.247457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Green List (High Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:44:07.291086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:43:47.106668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTPAP were set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:43:17.358209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:42:54.493949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672, Lethal encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:40:56.987506+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Green List (high evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:40:56.976373+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Green List (High Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:40:30.560032+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect.; to: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect. Functional data.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:40:23.334525+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIP13: Changed rating: GREEN",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:39:47.818402+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least two families reported, functional data.; to: Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy.\r\n\r\nThese are likely to represent a continuum of severity associated with a mitochondrial disorder.",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2021-11-30T15:13:01.103007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9970",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:33:09.831303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.855",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EMD: Rating: ; Mode of pathogenicity: None; Publications: 21697856, 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:00:35.507486+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:00:35.490531+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T14:00:27.624309+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:59:47.999728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTPBP3 were set to ",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:59:12.741116+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:58:44.045929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:58:00.653809+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:58:00.643220+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:57:57.370943+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:55:30.202914+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTPBP3 were set to ",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:55:00.757107+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:54:38.921489+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:53:59.910379+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:53:00.658070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:53:00.647035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:52:52.761602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23 MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:52:32.629255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTPBP3 were set to ",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:52:15.165782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:51:56.735258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:50:33.180379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:50:33.169812+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:50:29.326666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY to Combined oxidative phosphorylation deficiency 23 MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:50:17.177621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTPBP3 were set to ",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:50:02.463096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:48:21.749821+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIP1 as ready",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:48:21.739440+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grip1 has been classified as Green List (High Evidence).",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:48:19.048103+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:47:46.317650+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIP1 were set to ",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:47:16.800946+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:46:50.168229+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24700879, 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667, CAKUT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:46:03.371713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIP1 as ready",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:46:03.360692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grip1 has been classified as Green List (High Evidence).",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:45:55.742321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:45:33.491691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIP1 were set to ",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:45:03.993452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.; to: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.\r\n\r\n'Mild' bi-allelic variants also postulated to cause isolated CAKUT, PMID 24700879.",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:44:27.064489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIP1: Changed phenotypes: Fraser syndrome 3 MIM#617667, CAKUT",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:44:13.389193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIP1: Changed publications: 24700879, 24357607, 22510445",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:43:18.656913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:43:01.812083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:40:00.636220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIP1 as ready",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:40:00.609492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grip1 has been classified as Green List (High Evidence).",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:39:36.146954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIP1 were changed from Fraser syndrome 219000 to Fraser syndrome 3 MIM#617667",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:39:24.768006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIP1 were set to 22510445",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:38:33.027282+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL3 as ready",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:38:33.017222+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl3 has been classified as Green List (High Evidence).",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:38:30.129543+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL3 were changed from Cleft lip; VAN DER WOUDE SYNDROME 2 to Van der Woude syndrome 2 MIM#606713",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:38:21.900781+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHL3 were set to ",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:38:14.751381+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRHL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:38:05.615214+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:36:57.074013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL3 as ready",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:36:57.063772+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl3 has been classified as Green List (High Evidence).",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:36:49.170743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL3 were changed from to Van der Woude syndrome 2 MIM#606713",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:36:31.409436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHL3 were set to ",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:36:12.991736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRHL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRHL3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:35:29.593749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL3 as ready",
"entity_name": "GRHL3",
"entity_type": "gene"
}
]
}