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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1547",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1545",
"results": [
{
"created": "2020-10-09T15:47:00.342331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:46:53.794745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:46:32.671653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:46:11.998792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:32:30.887779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4843",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19744956, 20220177, 19744956, 20028792; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596, Mononeuropathy of the median nerve, mild MIM#613353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:29:44.955403+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.111",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:22:56.866422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4843",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: All conditions are regarded as a single disorder at variable ends of the phenotypic spectrum. The same variants have been reported in all three conditions, however reports for AD PE are consistently from older papers (pre-2005) and may have missed a 2nd hit (OMIM). More recent papers consistently report this condition as autosomal recessive (PMID: 28102862).; to: All conditions are regarded as a single disorder at variable ends of the phenotypic spectrum. The same variants have been reported in all three conditions, however reports for AD PXE are consistently from older papers (pre-2005) and may have missed a 2nd hit (OMIM). More recent papers consistently report this condition as autosomal recessive (PMID: 28102862).\r\n\r\nIn addition to missense, PTCs and splice variants, deletions and duplications in this gene comprise a significant proportion of variants and are a recognised mechanism / cause of PXE.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:02:22.570974+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.55",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: CAPN3: Changed publications: 32557990, 32342993",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:01:46.913651+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.55",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32557990, 32342993; Phenotypes: CAPN3-related muscular dystrophy, AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T15:01:09.067855+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.55",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-10-09T14:51:30.119906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4843",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-10-09T14:01:24.397824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4843",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14722918, 19738637, 32519823, 28150386, 21496008; Phenotypes: Epileptic encephalopathy, early infantile, 1 MIM#308350, Hydranencephaly with abnormal genitalia MIM#300215, Lissencephaly, X-linked 2 MIM#300215, Mental retardation, X-linked 29 and others MIM#300419, Partington syndrome MIM#309510, Proud syndrome MIM#300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:23:57.315458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBL1Y were changed from Hearing loss to Deafness, Y-linked 2, MIM# 400047",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:23:37.218898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBL1Y: Changed rating: RED; Changed phenotypes: Deafness, Y-linked 2, MIM# 400047",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:23:20.786895+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBL1Y were changed from Hearing loss to Deafness, Y-linked 2, MIM# 400047",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:22:47.129200+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBL1Y: Changed phenotypes: Deafness, Y-linked 2, MIM# 400047",
"entity_name": "TBL1Y",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:20:09.823987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM2 as ready",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:20:09.811809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm2 has been classified as Red List (Low Evidence).",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:20:00.155568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM2 was added\ngene: MCM2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MCM2 were set to 26196677\nPhenotypes for gene: MCM2 were set to Deafness, autosomal dominant 70, MIM# 616968\nReview for gene: MCM2 was set to RED\nAdded comment: One family, expression studies. \nSources: Expert Review",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:18:57.732659+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM2 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 70, MIM# 616968",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:18:19.051665+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 70, MIM# 616968; Mode of inheritance: None",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:16:06.574209+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB4 were changed from to Deafness",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:15:36.717889+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GJB4: Changed phenotypes: Deafness",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2020-10-09T12:13:11.711442+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMTC2 were changed from to Deafness, autosomal dominant",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2020-10-09T11:28:43.405023+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness, MIM#\t617879",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-10-09T11:28:07.028926+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis with early-onset deafness, MIM# 617879; Mode of inheritance: None",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-10-09T11:02:03.568148+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC12A2: Added comment: Second family with bi-allelic variants reported, encephalopathy and deafness.; Changed publications: 30740830, 32754646",
"entity_name": "SLC12A2",
"entity_type": "gene"
},
{
"created": "2020-10-09T10:42:32.596154+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD3 were changed from Sensorineural deafness to Lysyl hydroxylase 3 deficiency, MIM# 612394; Sensorineural deafness",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-10-09T10:41:57.275846+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM# 612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-10-09T10:22:34.357041+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1A were changed from Deafness, autosomal recessive and autosomal dominant to Deafness, autosomal dominant 7 MIM#601412; Deafness, autosomal recessive",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-10-09T09:00:37.086641+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness to Deafness, autosomal dominant 71, MIM#617605; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-10-09T09:00:00.481494+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 71, MIM#617605, Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-10-09T06:31:21.154218+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM#\t242150; Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-09T06:30:46.368643+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP1B1: Changed phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150, Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-09T06:26:54.382346+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome 1, MIM# 243310; Dystonia, juvenile-onset, MIM# 607371",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-10-09T06:26:15.266252+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310, Dystonia, juvenile-onset, MIM# 607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-10-08T22:28:30.173382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2020-10-08T22:28:30.165710+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2020-10-08T22:28:25.753927+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB2 as Green List (high evidence)",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2020-10-08T22:28:25.746489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2020-10-08T22:27:31.634890+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SATB2 was added\ngene: SATB2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SATB2 were set to 32446642\nPhenotypes for gene: SATB2 were set to Glass syndrome, MIM#\t612313\nReview for gene: SATB2 was set to GREEN\nAdded comment: In a cohort of 101 individuals with SATB2-associated syndrome, 41 had at least one prior abnormal EEG. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six individuals with definite clinical seizures needed polytherapy (35%). \nSources: Literature",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:55:33.474200+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:55:33.466280+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:55:30.469144+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to Hemiplegic migraine",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:55:03.612848+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to ",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:54:26.384650+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:53:57.330741+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25440161, 24824604, 20621801; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:51:32.276741+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:51:32.268530+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:51:26.979215+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A3 were changed from to Hemiplegic migraine",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:50:59.982390+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A3 were set to ",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:50:31.931836+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:50:04.604528+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A3 as Amber List (moderate evidence)",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:50:04.597333+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:49:36.837482+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32754645, 16116111; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:46:10.859535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A4 as ready",
"entity_name": "ATP1A4",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:46:10.851521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a4 has been classified as Red List (Low Evidence).",
"entity_name": "ATP1A4",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:45:59.725253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A4 was added\ngene: ATP1A4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP1A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A4 were set to 32549268\nPhenotypes for gene: ATP1A4 were set to Hemiplegic migraine\nReview for gene: ATP1A4 was set to RED\nAdded comment: Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals. \nSources: Literature",
"entity_name": "ATP1A4",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:44:36.273534+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A4 as ready",
"entity_name": "ATP1A4",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:44:36.261727+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a4 has been classified as Red List (Low Evidence).",
"entity_name": "ATP1A4",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:43:48.351666+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A4 was added\ngene: ATP1A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature\nMode of inheritance for gene: ATP1A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A4 were set to 32549268\nPhenotypes for gene: ATP1A4 were set to Hemiplegic migraine\nReview for gene: ATP1A4 was set to RED\nAdded comment: Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals. \nSources: Literature",
"entity_name": "ATP1A4",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:41:26.694280+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:41:26.679172+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:41:24.133907+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from to Migraine, familial hemiplegic, 3, MIM# 609634",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:40:56.923724+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN1A were set to ",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:40:22.432604+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:39:53.831941+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904117, 30498473, 30038559, 29986598; Phenotypes: Migraine, familial hemiplegic, 3, MIM# 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:37:27.668247+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKD as ready",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:37:27.657735+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Red List (Low Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:37:24.301792+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:36:55.745667+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:36:29.398667+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNKD as Red List (low evidence)",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:36:29.391773+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Red List (Low Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:36:00.458032+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:32:01.956488+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK18 as ready",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:32:01.947289+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk18 has been classified as Green List (High Evidence).",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:31:55.453258+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK18 were changed from to {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:31:26.693954+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK18 were set to ",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:30:57.003651+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNK18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:30:28.585580+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK18: Rating: GREEN; Mode of pathogenicity: None; Publications: 20871611, 32394190, 30573346, 23904616, 22355750; Phenotypes: {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:03:32.191307+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA1 as ready",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:03:32.174857+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:03:29.712114+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:03:06.794388+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA1 were set to ",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:02:38.053638+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:02:12.442326+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA1 as Amber List (moderate evidence)",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:02:12.418167+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T21:01:45.513454+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25642194; Phenotypes: Episodic ataxia/myokymia syndrome, MIM# 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:58:10.341399+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:58:10.332096+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:58:07.688688+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from to Migraine, familial hemiplegic, 1, MIM# 141500",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:57:39.055978+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:57:10.867825+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Migraine, familial hemiplegic, 1, MIM# 141500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:27:46.130281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSND as ready",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:27:46.120854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsnd has been classified as Green List (High Evidence).",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:27:39.439866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSND were changed from to Bartter syndrome, type 4a, MIM#602522",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:27:14.836369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BSND were set to ",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:26:51.635267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:26:34.319640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Some individuals with severe Bartter syndrome have been described as having intellectual disability, whereas others with milder symptoms have normal intellect. \nSources: Expert list; to: Well established gene-disease association.\r\nSources: Expert list",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-10-08T20:26:13.769766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BSND: Changed publications: 11687798, 12574213, 30174009, 21269598",
"entity_name": "BSND",
"entity_type": "gene"
}
]
}