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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=906",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=904",
"results": [
{
"created": "2022-03-29T08:14:51.066264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:12:54.877469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:12:54.867565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:11:54.630905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAT were changed from to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:11:36.319111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OAT were set to ",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:11:13.481839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:11:13.146428+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:11:13.133605+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:10:42.111469+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAT as Green List (high evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:10:42.101937+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:10:26.249368+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAT was added\ngene: OAT was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAT were set to 33068755; 1618792; 2220818; 3339136; 3417397; 2916581; 1737786; 33463379\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870\nReview for gene: OAT was set to GREEN\nAdded comment: Condition characterised by isolated elevation of plasma ornithine without elevation of ammonia \nSources: Expert Review",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:10:07.304620+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:10:07.292056+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Red List (Low Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:09:52.127974+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OAT were set to ",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:09:02.709362+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAT as Red List (low evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:09:02.693230+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Red List (Low Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:07:25.670674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP93 as ready",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:07:25.640604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup93 has been classified as Green List (High Evidence).",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:07:17.769184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP93 were changed from to Nephrotic syndrome, type 12 - MIM#616892",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:06:58.059441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP93 were set to ",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:06:31.807368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP93 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:05:22.446603+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: NUP62.",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:05:12.659991+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:03:45.417447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP62 as ready",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:03:45.401986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:03:37.268727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile - MIM#271930",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:03:16.711759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP62 were set to ",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:02:13.748841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:01:53.868162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP62 as Amber List (moderate evidence)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:01:53.849478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:01:09.330552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: NUP62.",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:00:42.989839+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP62 as Amber List (moderate evidence)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:00:42.976870+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:00:16.470086+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: NUP62.",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-29T07:58:31.360496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADH1B as ready",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-29T07:58:31.336648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adh1b has been classified as Red List (Low Evidence).",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-29T07:58:21.921284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADH1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:32:32.362955+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP8 as ready",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:32:32.352231+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:32:05.518396+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:31:35.912161+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASP8 were set to ",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:30:12.240076+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:29:15.709810+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP8 as Amber List (moderate evidence)",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:29:15.698767+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:29:04.367823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP8 as ready",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:29:04.361423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Amber in view of the functional data.",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:29:04.299146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:28:44.821639+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:28:24.316966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:28:01.060131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASP8 were set to ",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:27:40.366136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:27:19.594566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP8 as Amber List (moderate evidence)",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:27:19.577435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:26:24.934190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:25:32.118613+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY3 as ready",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:25:32.109171+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:25:22.298257+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY3 as Amber List (moderate evidence)",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:25:22.288931+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:25:13.840052+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADCY3 was added\ngene: ADCY3 was added to Severe early-onset obesity. Sources: Expert Review\nMode of inheritance for gene: ADCY3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADCY3 were set to 11055432; 29311636; 29311637\nPhenotypes for gene: ADCY3 were set to {Obesity, susceptibility to, BMIQ19} MIM#617885\nReview for gene: ADCY3 was set to AMBER\nAdded comment: PMID: 29311636 - founder canonical splice variant (c.2433-1G>A) in Greenlandic populations demonstrate higher risk of obesity, type 2 diabetes in homozygous individuals PMID: 29311637 - 4 unrelated families with severe early onset obesity, three with homozygous variants. \nSources: Expert Review",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:23:37.741469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY3 as ready",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:23:37.731877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:22:59.232478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY3 were changed from to {Obesity, susceptibility to, BMIQ19} MIM#617885",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:22:44.158488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY3 were set to ",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:21:47.953389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:21:16.017527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY3 as Amber List (moderate evidence)",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:21:16.005303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:20:23.112952+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP10 as ready",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:20:23.102253+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp10 has been classified as Green List (High Evidence).",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:20:20.606922+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:19:50.785411+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASP10 were set to ",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:19:22.078485+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:18:48.592321+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:12:05.130070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB3 as ready",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:12:05.118761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:11:57.227794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:11:38.915075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB3 were set to ",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:11:18.712714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:11:00.650487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 25835445, 15639475; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:08:27.117110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB2 as ready",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:08:27.106944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:08:18.042276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:07:54.726982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:07:36.261154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:06:30.423900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB1 as ready",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:06:30.408467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb1 has been classified as Green List (High Evidence).",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:06:22.438587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB1 were changed from to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Camurati-Engelmann disease, MIM# 131300",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:06:02.040546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB1 were set to ",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:05:41.392343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:05:23.719277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29483653, 10973241, 35315241, 30721323; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213, Camurati-Engelmann disease, MIM# 131300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:01:13.850090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TG as ready",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:01:13.837281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tg has been classified as Green List (High Evidence).",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:00:57.636281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3, MIM# 274700",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:00:38.103308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TG were set to ",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-03-28T18:00:18.326564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:59:57.571567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33832185, 19169491, 28620499, 18631008, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:52:41.018377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12183",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:52:26.296836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12183",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: OAT: Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:51:36.414047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12183",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: None",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:51:27.760627+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.4",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: 33068755, 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:39:27.952084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12183",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391; Phenotypes: Nephrotic syndrome, type 12 - MIM#616892; Mode of inheritance: None",
"entity_name": "NUP93",
"entity_type": "gene"
}
]
}