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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=990",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=988",
"results": [
{
"created": "2022-02-17T09:18:32.373150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmnd1 has been classified as Green List (High Evidence).",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:18:19.359087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:16:40.156276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RLIM as ready",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:16:40.143198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlim has been classified as Green List (High Evidence).",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:16:36.768168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RLIM were changed from INTELLECTUAL DISABILITY to Tonne-Kalscheuer syndrome, MIM# 300978",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:16:23.254185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RLIM were set to ",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:16:09.201438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RLIM as Green List (high evidence)",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:16:09.190775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlim has been classified as Green List (High Evidence).",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:15:00.307843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIN2 as ready",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:15:00.292554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:14:56.529528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:14:42.167985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIN2 were set to ",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:14:28.447727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIN2 as Green List (high evidence)",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-17T09:14:28.434591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T17:28:09.962454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIN2 as ready",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T17:28:09.952912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T17:27:40.293499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIN2 were changed from to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T17:26:24.308750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIN2 were set to ",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T17:26:00.764073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:55:19.417241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631308, 20424861, 20954239, 24449201, 30769224; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:54:32.843756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Macrocephaly, subcortical cysts and other brain abnormalities are a feature.; to: Macrocephaly, subcortical cysts and other brain abnormalities are a feature. More than 5 unrelated families reported.",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:54:19.755640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIN2: Changed publications: 19631308, 20424861, 20954239, 24449201, 30769224",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:52:49.444966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not a key feature of this syndrome, most individuals described as having normal/borderline intellect.; to: Macrocephaly, subcortical cysts and other brain abnormalities are a feature.",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:52:26.854775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIN2: Changed rating: GREEN",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:50:03.316386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFT1 as ready",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:50:03.304360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:49:56.395375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFT1 were set to ",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:49:40.186118+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.; to: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.\r\n\r\nClinical presentation is typically post-natal, though age of onset of microcephaly is uncertain.",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:49:16.211164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RFT1: Changed rating: AMBER",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:47:28.228223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM10 as ready",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:47:28.212616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm10 has been classified as Green List (High Evidence).",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:45:37.279709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM10 were set to ",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:45:14.890738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM10 as Green List (high evidence)",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:45:14.881464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm10 has been classified as Green List (High Evidence).",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:44:51.726456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:44:46.602415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBM10: Added comment: Well established gene-disease association, multiple congenital anomalies.; Changed rating: GREEN; Changed publications: 20451169, 24259342, 30450804, 30189253",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:30:39.657593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3561",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia MIM615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:29:00.470206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP8 as ready",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:29:00.457840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Green List (High Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:28:55.988068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744 to Jawad syndrome, MIM# 251255; Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:28:42.606998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to ",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:28:30.243180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBBP8 as Green List (high evidence)",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:28:30.230691+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Green List (High Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:27:47.717803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51C as ready",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:27:47.707321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:27:43.781228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD51C were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP 0 to Fanconi anemia, complementation group O, MIM# 613390",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:27:29.852349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD51C were set to ",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:27:16.402443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51C as Green List (high evidence)",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:27:16.393268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:26:37.678003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51 as ready",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:26:37.668125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51 has been classified as Green List (High Evidence).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:26:33.759068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD51 were changed from MIRROR MOVEMENTS 2 to Fanconi anaemia, complementation group R, MIM# 617244",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:25:19.181948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD51 were set to ",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:25:03.983200+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD51 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:24:52.807661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51 as Green List (high evidence)",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:24:52.798315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51 has been classified as Green List (High Evidence).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:24:41.179687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities.\r\nSources: Expert Review; to: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. \r\nSources: Expert Review",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:24:31.492165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAD51: Changed rating: GREEN",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:23:28.356317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB11B as ready",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:23:28.345873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab11b has been classified as Green List (High Evidence).",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:23:19.596979+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB11B were changed from INTELLECTUAL DISABILITY to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM# 617807",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:22:53.710846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB11B were set to ",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:22:41.705183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB11B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:22:31.800164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB11B as Green List (high evidence)",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:22:31.790461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab11b has been classified as Green List (High Evidence).",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:19:10.048248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB11A as ready",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:19:10.029039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab11a has been classified as Red List (Low Evidence).",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:19:05.534609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB11A were set to ",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:18:53.739680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:18:43.755186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB11A as Red List (low evidence)",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:18:43.745666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab11a has been classified as Red List (Low Evidence).",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:18:32.237127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated. \nSources: Literature; to: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.\r\n\r\nClinical presentation is post-natal.\r\nSources: Literature",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T16:17:47.759513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAB11A: Changed rating: RED",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:35:56.684940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DMP1: Rating: RED; Mode of pathogenicity: None; Publications: 17033625, 17033621, 31843680; Phenotypes: Hypophosphatemic rickets, AR MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:23:04.757277+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CYP11B1 as Green List (high evidence)",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:23:04.747848+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cyp11b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:22:29.490775+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:17:57.956546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:17:57.945801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Green List (High Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:17:50.137451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:17:29.174444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLD were set to ",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:17:07.883858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:35.954362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:35.944378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Red List (Low Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:29.328654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLD were changed from LEIGH SYNDROME; DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY to Dihydrolipoamide dehydrogenase deficiency MIM#246900",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:15:11.624568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLD were set to ",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:39.049018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT9B as ready",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:39.033337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:30.809977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT9B as Amber List (moderate evidence)",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T14:14:30.793419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:33:35.793417+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Combined oxidative phosphorylation deficiency 54, MIM# 619737 to Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:33:14.359380+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:32:40.255361+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:32:30.671274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:32:14.342742+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:31:36.993581+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:31:26.962719+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:30:59.326127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA0391.",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:30:34.110412+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM#\t619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
},
{
"created": "2022-02-16T13:29:51.179922+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737",
"entity_name": "KIAA0391",
"entity_type": "gene"
}
]
}