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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1923",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1921",
"results": [
{
"created": "2020-02-24T16:04:32.254036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1435",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).; to: Homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-02-24T16:04:17.668997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1435",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: A few homozygous families reported to date. Variants are expected to results in a loss of function, although functional studies have not been performed.; to: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-02-24T15:54:50.482508+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.613",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706016, 24259184, 29159939; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2020-02-24T15:12:20.537169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1435",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-02-24T13:57:19.620659+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.313",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOF",
"entity_type": "gene"
},
{
"created": "2020-02-24T13:31:55.822308+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.17",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16287139; Phenotypes: Atrial septal defect 8, 614433, Ventricular septal defect 2, 614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:40:50.873644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:40:50.865118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:40:39.164236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from to Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:40:17.213704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCE were set to ",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:39:49.390962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:38:53.930047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTRA1 as ready",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:38:53.916845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra1 has been classified as Green List (High Evidence).",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:38:43.197064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTRA1 were changed from to {Macular degeneration, age-related, 7}, 6101493; {Macular degeneration, age-related, neovascular type}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:38:16.754412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTRA1 were set to ",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:38:02.540866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HTRA1 was changed from to Other",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-23T08:37:47.140307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:40:08.887259+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI3 as ready",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:40:08.873951+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3 has been classified as Green List (High Evidence).",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:40:04.251415+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI3 were changed from to ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:39:42.316853+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI3 were set to ",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:39:20.566718+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TNNI3 was changed from to Other",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:38:54.858938+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:37:53.733426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLPBP as ready",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:37:53.720581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plpbp has been classified as Green List (High Evidence).",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:37:27.398552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, 617290",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:37:12.371442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLPBP were set to ",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:36:52.124852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:36:13.767148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:36:13.758481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:35:54.048949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1 (MIM#151100); Noonan syndrome 1 (MIM#163950); Metachondromatosis (MIM#156250)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:35:32.994142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPN11 were set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:35:25.181810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PTPN11 was changed from to Other",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:35:07.797402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:14:42.383737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:14:42.369882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Green List (High Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:14:30.881654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE1 were changed from to Arthrogryposis multiplex congenita, myogenic type, MIM# 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:13:33.398122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE1 were set to ",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:13:16.099504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-22T18:12:52.490794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SYNE1: Added comment: Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.\r\nDistal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.; Changed rating: GREEN; Changed publications: 23352163, 27782104; Changed phenotypes: Arthrogryposis multiplex congenita, myogenic type, MIM# 618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998, Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:48:26.988458+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:48:13.030541+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPT1 as ready",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:48:13.020274+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpt1 has been classified as Green List (High Evidence).",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:48:07.520469+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:47:47.156713+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:47:22.953085+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to ",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:46:59.499507+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:46:30.811419+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:41:47.081308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPT1 as ready",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:41:47.077113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Those initially presenting with deafness may be at risk of progressive complex neurological course.",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:41:47.047380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpt1 has been classified as Green List (High Evidence).",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:33:17.213932+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPT1 as ready",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:33:17.200308+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpt1 has been classified as Green List (High Evidence).",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:33:12.282424+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:32:42.963012+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to ",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:32:19.380849+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:29:56.693855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPT1 as ready",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:29:56.681232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpt1 has been classified as Green List (High Evidence).",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:29:46.755344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:29:24.701062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to ",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-22T07:28:41.357058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-21T15:46:01.779533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-Caffey syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-02-21T15:38:29.687532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29895533, 19387015; Phenotypes: {Macular degeneration, age-related, 7}, 6101493, {Macular degeneration, age-related, neovascular type}, 610149, CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-21T15:07:13.640162+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15607392; Phenotypes: ?Cardiomyopathy, dilated, 2A 611880, Cardiomyopathy, dilated, 1FF 613286, Cardiomyopathy, familial restrictive, 1115210, Cardiomyopathy, hypertrophic, 761369; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-02-21T14:28:52.336515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29689137, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-02-21T13:31:19.113599+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-21T10:47:57.760271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24935154, 11704759, 21533187; Phenotypes: LEOPARD syndrome 1 (MIM#151100), Noonan syndrome 1 (MIM#163950), Metachondromatosis (MIM#156250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-02-21T10:08:16.326990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30573412; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743); Mode of inheritance: None",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2020-02-21T08:58:52.327622+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.85",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-21T08:56:15.124676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 30244537, PMID: 28594066, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:30:33.644458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPP3 as ready",
"entity_name": "MPP3",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:30:33.636184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpp3 has been classified as Red List (Low Evidence).",
"entity_name": "MPP3",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:30:24.367942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPP3 as Red List (low evidence)",
"entity_name": "MPP3",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:30:24.359555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpp3 has been classified as Red List (Low Evidence).",
"entity_name": "MPP3",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:30:07.140091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MPP3",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:24:46.077093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRX as ready",
"entity_name": "GLRX",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:24:46.067941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx has been classified as Red List (Low Evidence).",
"entity_name": "GLRX",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:24:33.288358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRX as Red List (low evidence)",
"entity_name": "GLRX",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:24:33.275646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx has been classified as Red List (Low Evidence).",
"entity_name": "GLRX",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:24:16.126821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLRX: Rating: RED; Mode of pathogenicity: None; Publications: 27958883; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GLRX",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:02:34.617819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GC as ready",
"entity_name": "GC",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:02:34.609201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gc has been classified as Red List (Low Evidence).",
"entity_name": "GC",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:02:25.193903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GC as Red List (low evidence)",
"entity_name": "GC",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:02:25.185392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gc has been classified as Red List (Low Evidence).",
"entity_name": "GC",
"entity_type": "gene"
},
{
"created": "2020-02-20T10:01:57.560519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1412",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "reviewed gene: GC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GC",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:58:50.083117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AANAT as ready",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:58:50.070033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aanat has been classified as Red List (Low Evidence).",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:58:41.364245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AANAT were changed from to Delayed sleep phase, susceptibility to",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:58:05.830036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AANAT were set to ",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:57:42.344735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AANAT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:57:24.053920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AANAT as Red List (low evidence)",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:57:24.044956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aanat has been classified as Red List (Low Evidence).",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:56:49.992081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AANAT: Rating: RED; Mode of pathogenicity: None; Publications: 12736803; Phenotypes: Delayed sleep phase, susceptibility to; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AANAT",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:43:56.899923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DUX4.",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:43:33.411400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUX4 as ready",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:43:33.402752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dux4 has been classified as Red List (Low Evidence).",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:43:20.304158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUX4 were changed from to Fascioscapulohumeral muscular dystrophy, MIM#158900",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:42:55.187593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:42:35.684352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUX4 as Red List (low evidence)",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2020-02-20T09:42:35.675479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dux4 has been classified as Red List (Low Evidence).",
"entity_name": "DUX4",
"entity_type": "gene"
}
]
}