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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1737",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1735",
"results": [
{
"created": "2020-07-11T10:34:35.614001+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATAD1 was added\ngene: ATAD1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD1 were set to 29659736; 29390050; 28180185\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#\t618011\nReview for gene: ATAD1 was set to AMBER\nAdded comment: At least one family where arthrogryposis was a prominent manifestation of this neurological condition. \nSources: Expert list",
"entity_name": "ATAD1",
"entity_type": "gene"
},
{
"created": "2020-07-10T21:00:39.804228+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T21:00:39.796265+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T21:00:37.500045+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 308350; Hydranencephaly with abnormal genitalia 300215; Lissencephaly, X-linked 2 300215; Mental retardation, X-linked 29 and others 300419; Partington syndrome 309510; Proud syndrome 300004",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T21:00:16.343253+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:59:54.661081+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.79",
"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, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:59:33.622206+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARX as Amber List (moderate evidence)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:59:33.614774+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:59:11.189315+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 21416597; Phenotypes: Epileptic encephalopathy, early infantile, 1 308350, Hydranencephaly with abnormal genitalia 300215, Lissencephaly, X-linked 2 300215, Mental retardation, X-linked 29 and others 300419, Partington syndrome 309510, Proud syndrome 300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:53:24.449591+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:53:24.436470+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Red List (Low Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:53:22.168297+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, MIM# 304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:52:59.850723+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S2 were set to ",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:52:40.185723+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:52:20.153402+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1S2 as Red List (low evidence)",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:52:20.143870+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Red List (Low Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:51:57.872214+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: None; Publications: 30714330; Phenotypes: Mental retardation, X-linked syndromic 5, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:45:55.386131+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG3 as ready",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:45:55.375957+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:45:50.736550+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG3 as Green List (high evidence)",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-07-10T20:45:50.730187+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-07-10T18:35:26.931168+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG3 were set to 16006436; 26453362; 28742265\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110\nReview for gene: ALG3 was set to GREEN\nAdded comment: Multiple families reported with this CDG and contractures. \nSources: Expert list",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-07-10T17:15:49.185802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C17orf62 were changed from Chronic granulomatous disease to Chronic granulomatous disease 5, autosomal recessive, MIM#\t618935",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-07-10T17:15:32.715664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C17orf62.",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-07-10T17:15:20.608200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C17orf62: Changed phenotypes: Chronic granulomatous disease 5, autosomal recessive, MIM# 618935",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-07-10T17:14:59.482026+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C17orf62 were changed from Chronic granulomatous disease to Chronic granulomatous disease 5, autosomal recessive, MIM#\t618935",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-07-10T17:14:20.460290+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C17orf62.",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-07-10T17:14:12.307784+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C17orf62: Changed phenotypes: Chronic granulomatous disease 5, autosomal recessive, MIM# 618935",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:52:31.166371+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPA as ready",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:52:31.157401+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:52:28.442545+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPA were changed from to Epileptic encephalopathy, early infantile, 35, MIM# 616647",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:52:06.341548+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPA were set to ",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:51:45.974033+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:51:26.331856+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITPA as Amber List (moderate evidence)",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:51:26.322671+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpa has been classified as Amber List (Moderate Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:51:04.687267+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 26224535, 30816001; Phenotypes: Epileptic encephalopathy, early infantile, 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:36:37.413498+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.745",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:NAXD from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-10T16:36:03.094382+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAXD as ready",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:36:03.079595+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naxd has been classified as Green List (High Evidence).",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:35:58.057418+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAXD as Green List (high evidence)",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:35:58.048110+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naxd has been classified as Green List (High Evidence).",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-07-10T16:35:49.235956+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAXD was added\ngene: NAXD was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXD were set to 32462209\nPhenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321\nReview for gene: NAXD was set to GREEN\nAdded comment: Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. \nSources: Expert list",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-07-10T14:23:36.864159+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.744",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: NAXD was added\ngene: NAXD was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXD were set to PMID: 32462209\nPhenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321\nReview for gene: NAXD was set to GREEN\nAdded comment: Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy\r\n\r\nPatient reported with progressive encephalopathy with brain edema \nSources: Literature",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:36:25.918401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYSF as ready",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:36:25.908884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dysf has been classified as Green List (High Evidence).",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:36:19.608272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYSF were changed from to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:36:03.854293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYSF were set to ",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:35:48.570900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:33:09.947050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEB as ready",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:33:09.937530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neb has been classified as Green List (High Evidence).",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:33:03.854235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEB were changed from to Nemaline myopathy 2, autosomal recessive 256030",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:32:47.800274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEB were set to ",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:32:32.266252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:28:53.142357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777931; Phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:27:48.982679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS34 as ready",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:27:48.973281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps34 has been classified as Green List (High Evidence).",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:27:42.547886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS34 were changed from to Combined oxidative phosphorylation deficiency 32, 61766",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:27:23.902542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS34 were set to ",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T21:27:08.258466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T15:43:31.847998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28777931; Phenotypes: Combined oxidative phosphorylation deficiency 32, 61766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-07-09T14:13:49.310103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25205138; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-07-09T14:00:04.537634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27602406; Phenotypes: Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, autosomal recessive 2 253601, Myopathy, distal, with anterior tibial onset 606768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:12:32.033374+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HS6ST1 as ready",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:12:32.022488+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:11:54.966359+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HS6ST1 as Red List (low evidence)",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:11:54.952445+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:10:49.373177+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HARS2 as ready",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:10:49.343536+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Green List (High Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:10:44.863059+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from ?Perrault syndrome 2 614926 to Perrault syndrome 2 614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:10:37.429094+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HARS2 were set to ",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:09:31.469246+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNRHR as ready",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:09:31.459155+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gnrhr has been classified as Green List (High Evidence).",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:09:24.982187+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GNRHR were set to ",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:08:36.181130+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNRH1 as ready",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:08:36.168688+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Green List (High Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:08:33.394434+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GNRH1 were changed from ?Hypogonadotropic hypogonadism 12 with or without anosmia 614841 to Hypogonadotropic hypogonadism 12 with or without anosmia 614841",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:08:25.721623+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GNRH1 were set to ",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:07:04.926597+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FLRT3 as ready",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:07:04.916567+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flrt3 has been classified as Red List (Low Evidence).",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:06:56.466110+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FLRT3 were set to ",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:06:34.388126+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLRT3 as Red List (low evidence)",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:06:34.376725+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flrt3 has been classified as Red List (Low Evidence).",
"entity_name": "FLRT3",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:05:09.657362+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IL17RD as ready",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:05:09.644744+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il17rd has been classified as Red List (Low Evidence).",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:04:56.508847+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IL17RD as Red List (low evidence)",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:04:56.492108+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il17rd has been classified as Red List (Low Evidence).",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-07-09T10:04:09.764216+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: IL17RD were set to ",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:21:24.376731+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCAT as Amber List (moderate evidence)",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:21:24.367856+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcat has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:19:02.990433+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMX1B as Amber List (moderate evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:19:02.983456+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:18:41.272182+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cataract is a feature of nail-patella syndrome.; to: Cataract is a reported feature of nail-patella syndrome but the typical finding is that of glaucoma.",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:18:11.119201+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Changed rating: AMBER",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:15:18.376814+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:15:18.366648+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Green List (High Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:15:15.704736+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome, MIM# 161200",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:14:54.224067+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:14:31.243141+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:03:28.635033+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-07-08T18:03:28.628533+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
}
]
}