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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1504",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1502",
"results": [
{
"created": "2020-11-13T20:08:53.339480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:07:59.704993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALT7 were set to ",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:07:27.740231+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:06:56.278007+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31278392, 31614862, 31862401; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:04:30.995680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:04:30.985243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:04:23.477494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:04:02.801527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALT7 were set to ",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:03:24.726216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:03:08.263087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: B4GALT7.",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:02:52.313001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T19:01:36.663486+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX6 as ready",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T19:01:36.652420+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx6 has been classified as Green List (High Evidence).",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T19:01:33.618525+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from to Spondylocostal dysostosis 5, 122600",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T19:00:21.108797+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX6 were set to ",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:59:53.629353+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:59:24.983162+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262, 30307510, 31015262; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:59:00.493406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis to Spondylocostal dysostosis 5, 122600",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:57:11.975273+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX6 as ready",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:57:11.964323+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx6 has been classified as Green List (High Evidence).",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:57:09.114730+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5\t122600; Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5\t122600",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:56:45.083432+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX6 were set to ",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:56:16.343002+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:55:45.875628+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33058178, 31015262, 30636772, 28054739, 23335591, 30307510; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:41:19.881162+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:41:19.869187+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:41:16.625216+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ2 were changed from to Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:40:46.194654+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ2 were set to ",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:40:15.613197+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNQ2 was changed from to Other",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:39:43.518065+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:39:03.028900+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25959266, 32917465, 24318194; Phenotypes: Epileptic encephalopathy, early infantile, 7, 613720, Seizures, benign neonatal, 1, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:33:50.241028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNQ2: Changed rating: GREEN",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:33:17.421136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:33:17.406014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:33:10.378019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ2 were changed from to Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:32:48.558857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ2 were set to ",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:32:20.602139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNQ2 was changed from to Other",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T18:32:03.739237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T14:41:00.858831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 25959266, 32917465, 24318194; Phenotypes: Epileptic encephalopathy, early infantile, 7, 613720, Seizures, benign neonatal, 1, 121200, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T14:28:55.848667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070; Phenotypes: PMID: 31278392, 31614862, 31862401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T14:27:23.173386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 18034870, 23812909, 26942290; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T08:57:29.296608+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LIFR as ready",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-11-13T08:57:29.284960+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lifr has been classified as Green List (High Evidence).",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-11-13T08:57:15.642613+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LIFR as Green List (high evidence)",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-11-13T08:57:15.631472+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lifr has been classified as Green List (High Evidence).",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-11-13T08:56:47.542261+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.41",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to OMIM# 601559 STUVE-WIEDEMANN SYNDROME; STWS\ngene: LIFR was marked as current diagnostic\nAdded comment: Dysautonomia a common feature \nSources: Literature",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:58:40.526821+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1A as ready",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:58:40.518237+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1a has been classified as Green List (High Evidence).",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:58:36.310016+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF1A as Green List (high evidence)",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:58:36.300188+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1a has been classified as Green List (High Evidence).",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:58:08.661833+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF1A were set to 31512412; 32652677\nPhenotypes for gene: KIF1A were set to NESCAV syndrome, MIM#\t614255; Rett-like syndrome\nReview for gene: KIF1A was set to GREEN\nAdded comment: Individuals identified in Rett and Rett-like cohorts. \nSources: Literature",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:10:39.460351+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:10:39.452202+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:10:35.680833+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, 191100; Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:09:46.466218+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC1 were set to 32917966",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:09:24.044977+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC1 were set to ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:08:53.041585+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T18:08:25.473084+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TSC1.",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T16:36:53.992926+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.23",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32917966; Phenotypes: Tuberous sclerosis-1, 191100, Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341, Lymphangioleiomyomatosis, 606690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-11-12T14:45:40.713524+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2020-11-12T14:43:14.572784+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.47",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: COL4A5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:52:33.923244+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:52:33.914850+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:52:25.050251+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNA1 as Green List (high evidence)",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:52:25.039724+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:52:15.129349+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHRNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1A, slow-channel, MIM#\t601462\nReview for gene: CHRNA1 was set to GREEN\nAdded comment: Ophthalmoplegia is a feature of this condition. \nSources: Expert list",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:50:29.456270+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:50:29.445409+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:50:26.255608+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:50:01.386322+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKRP as Green List (high evidence)",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-11-12T12:50:01.375639+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-11-12T09:24:33.908249+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.87",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: FKRP was added\ngene: FKRP was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKRP were set to PMID: 32914449\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153\nReview for gene: FKRP was set to GREEN\nAdded comment: PMID: 32914449 - reviewed 56 patients w/ LGMD R9 and biallelic FKRP mutations. Dilated cardiomyopathy detected in 45% of patients with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other genotypes. \nSources: Literature",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:38:36.840902+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:38:36.831016+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:38:31.584865+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHAT as Green List (high evidence)",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:38:31.574179+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:38:21.592143+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHAT was added\ngene: CHAT was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, MIM#\t254210\nReview for gene: CHAT was set to GREEN\nAdded comment: Ophthalmoparesis and strabismus are a feature. \nSources: Expert list",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:35:50.956476+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA1 as ready",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:35:50.941965+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Green List (High Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:35:43.826408+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPA1 as Green List (high evidence)",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:35:43.813710+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Green List (High Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:35:34.001116+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPA1 was added\ngene: OPA1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, MIM#\t125250\nReview for gene: OPA1 was set to GREEN\nAdded comment: Childhood onset disorder, characterised by optic atrophy, but progressive external ophthalmoplegia can be a feature. \nSources: Expert list",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:24:21.550868+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO2 as ready",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:24:21.536988+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:24:17.887773+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIEZO2 as Green List (high evidence)",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:24:17.874579+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:24:08.266579+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5, MIM#\t108145; Arthrogryposis, distal, type 3, MIM#\t114300\nReview for gene: PIEZO2 was set to GREEN\nAdded comment: Ophthalmoplegia is an associated feature. \nSources: Expert list",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:18:38.342315+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:18:38.330979+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:18:34.384735+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS1 as Green List (high evidence)",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:18:34.373403+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:18:24.644075+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS1 was added\ngene: NDUFS1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, MIM#\t618226\nReview for gene: NDUFS1 was set to GREEN\nAdded comment: Nystagmus, strabismus and ophthalmoplegia are features. \nSources: Expert list",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:05:45.183134+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGME1 as ready",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:05:45.173388+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgme1 has been classified as Green List (High Evidence).",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:05:40.691161+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGME1 as Green List (high evidence)",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:05:40.680044+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgme1 has been classified as Green List (High Evidence).",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-11-11T18:05:30.941757+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGME1 was added\ngene: MGME1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, MIM#615084\nReview for gene: MGME1 was set to GREEN\nAdded comment: Onset in the first decade, and progressive external ophthalmoplegia is a prominent feature. \nSources: Expert list",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:48:51.365705+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:48:51.357952+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:48:44.026935+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A6 as Green List (high evidence)",
"entity_name": "SLC9A6",
"entity_type": "gene"
}
]
}