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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=940",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=938",
"results": [
{
"created": "2022-03-14T17:24:52.488290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:24:41.186818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:24:17.836286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414; Phenotypes: SESAME syndrome, MIM# 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:24:14.646006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ10 were set to ",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:23:46.785483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:23:14.404260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK3 as ready",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:23:14.385326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:23:04.592530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414; Phenotypes: SESAME syndrome, MIM# 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:20:34.540415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNK3 as Amber List (moderate evidence)",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:20:34.529154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:20:14.766298+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNK3 as Amber List (moderate evidence)",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:20:14.750503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:18:40.830167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK18 as ready",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:18:40.820350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11328",
"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": "2022-03-14T17:18:33.260876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11328",
"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": "2022-03-14T17:18:10.029846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK18 were set to ",
"entity_name": "KCNK18",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:17:49.107016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11326",
"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": "2022-03-14T17:17:30.704015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11325",
"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": "2022-03-14T17:16:15.669578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNK3 was added\ngene: KCNK3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNK3 were set to 33057194\nPhenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related\nReview for gene: KCNK3 was set to AMBER\nAdded comment: Established pulmonary hypertension gene.\r\n\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (7 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Expert Review",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:16:12.081272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK3 as ready",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:16:12.067212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk3 has been classified as Green List (High Evidence).",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:15:24.855974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK3 were set to ",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:10:49.999138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK3 were changed from Pulmonary hypertension, primary, 4 MIM#615344 to Pulmonary hypertension, primary, 4 MIM#615344; Neurodevelopmental disorder, MONDO:0700092, KCNK3-related",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:08:39.373766+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMA1 as ready",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:08:39.350378+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:08:35.160859+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNMA1 as Green List (high evidence)",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:08:35.149301+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:07:55.046466+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNMA1 was added\ngene: KCNMA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNMA1 were set to 31152168\nPhenotypes for gene: KCNMA1 were set to Liang-Wang syndrome, MIM#\t618729\nReview for gene: KCNMA1 was set to GREEN\nAdded comment: Mono-allelic and bi-allelic variants in this gene are associated with a range of neurological phenotypes.\r\n\r\nHowever, 8 unrelated individuals reported with de novo missense variants and a multiple malformations syndrome, which includes vascular tortuosity/ectasia and aortic aneurysm as features. \nSources: Expert list",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:07:39.359175+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMA1 as ready",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:07:39.344674+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:05:04.517831+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:04:34.547112+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNMA1 were set to ",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:03:47.774504+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNMA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:03:29.683905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMA1 as ready",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:03:29.672990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:03:09.575740+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:01:54.429969+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMA1 as ready",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:01:54.420395+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:01:51.056300+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:01:14.581003+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNMA1 were set to ",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:53:58.627649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:53:21.601954+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193, 27567911, 29545233, 31427379, 31152168; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446, Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Liang-Wang syndrome, MIM# 618729; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:53:19.288279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:52:57.579143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNMA1 were set to ",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:52:33.870950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:52:14.199983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals with KCNMA1-related channelopathy described, both mono allelic and bi-allelic disease reported; a variety of neurologic symptoms, including ID; some variants are LoF and some are gain of function, some correlation between mechanism of pathogenicity and phenotype.; to: Multiple individuals with KCNMA1-related channelopathy described, both mono allelic and bi-allelic disease reported; a variety of neurologic symptoms, including ID; some variants are LoF and some are gain of function, some correlation between mechanism of pathogenicity and phenotype.\r\n\r\nLiang-Wang syndrome is a polymalformation syndrome with neurological involvement.",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:51:47.637589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193, 27567911, 29545233, 31427379, 31152168; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446, Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Liang-Wang syndrome, MIM# 618729; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:49:45.301551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT8L as ready",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:49:45.292612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:49:14.760664+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT8L as ready",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:49:14.750840+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:48:45.301825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMB1 as ready",
"entity_name": "KCNMB1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:48:45.275334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnmb1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNMB1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:48:37.844865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMB1 were changed from to {Hypertension, diastolic, resistance to} 608622",
"entity_name": "KCNMB1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:48:31.137775+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:48:10.152406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNMB1 as Red List (low evidence)",
"entity_name": "KCNMB1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:48:10.134648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnmb1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNMB1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:47:53.099754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNMB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hypertension, diastolic, resistance to} 608622; Mode of inheritance: None",
"entity_name": "KCNMB1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:45:36.972841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECHS1 as ready",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:45:36.961901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:43:37.512010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT8L were changed from to N-acetylaspartate deficiency - MIM#614063",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:43:18.671460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAT8L were set to ",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:42:59.037441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAT8L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:42:36.611488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT8L as Red List (low evidence)",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:42:36.600545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:42:19.648073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:41:37.167757+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT8L as Red List (low evidence)",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:41:37.157486+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:41:28.452928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT8L as ready",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:41:28.436928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:41:16.546012+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:41:14.967631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:40:41.371018+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT8L as Red List (low evidence)",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:40:41.359608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:40:08.932245+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:39:44.506389+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT8L as ready",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:39:44.492223+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:25:11.469591+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT8L were changed from N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:24:42.480768+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:24:32.615361+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT8L as ready",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:24:32.604170+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:24:28.498789+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:24:12.679202+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT8L as Red List (low evidence)",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:24:12.667856+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:23:37.445089+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:23:23.519278+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT8L as Red List (low evidence)",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:23:23.506267+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:22:46.316500+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:18:42.525983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT2 as ready",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:18:42.516869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat2 has been classified as Red List (Low Evidence).",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:18:34.939194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAT2 were changed from to [Acetylation, slow] - MIM#243400",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:17:58.117637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAT2 were set to ",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:17:37.565638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:16:54.256089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT2 as Red List (low evidence)",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:16:54.240199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat2 has been classified as Red List (Low Evidence).",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:13:48.015870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EDA as ready",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:13:48.004013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eda has been classified as Green List (High Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:12:12.556771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EDA were changed from to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:10:18.513509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EDA were set to ",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-03-14T16:08:41.966452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
}
]
}