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{
"count": 220460,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1530",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1528",
"results": [
{
"created": "2020-10-22T16:37:43.095106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5067",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCF21 as Red List (low evidence)",
"entity_name": "TCF21",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:37:43.083483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5067",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcf21 has been classified as Red List (Low Evidence).",
"entity_name": "TCF21",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:37:17.820642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5066",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TCF21: Rating: RED; Mode of pathogenicity: None; Publications: 16156022, 10769282, 24875298; Phenotypes: Sensorineural hearing loss, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TCF21",
"entity_type": "gene"
},
{
"created": "2020-10-22T10:57:22.627636+11:00",
"panel_name": "Retinal Disorders Superpanel",
"panel_id": 3124,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Retinal Disorders to Retinal Disorders Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-22T09:14:36.131441+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1A were changed from Epilepsy to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:13:57.517572+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD1A were set to 31197650",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:13:23.053647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 3 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; to: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:13:06.527819+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 3 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; to: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:12:48.243128+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1A: Added comment: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM# 618832, Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:12:17.654540+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. \nSources: Literature; to: PMID: 31197650. Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. \r\nSources: Literature",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:11:16.363139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1A were changed from Epilepsy, early-onset, with or without developmental delay, MIM#\t618832 to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:10:49.248703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1A: Added comment: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 3 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM# 618832, Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:09:47.011559+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1A were changed from Epilepsy, early-onset, with or without developmental delay, MIM#\t618832 to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-22T09:09:07.184308+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1A: Added comment: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.\r\n\r\nIn addition, there are 3 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM# 618832, Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:41:40.372093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JARID2 were set to 23294540",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:41:19.838525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JARID2 as Green List (high evidence)",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:41:19.828577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Green List (High Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:41:00.719760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JARID2: Added comment: 13 additional individuals reported, note CNVs common but LOF sequence variants identified too.; Changed rating: GREEN; Changed publications: 23294540, 33077894",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:39:51.405393+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JARID2 were set to 23294540",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:39:14.375958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: JARID2.",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:39:03.981476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JARID2 as Green List (high evidence)",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:39:03.971048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Green List (High Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:38:30.949710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 13 additional individuals reported, note CNVs common.; to: 13 additional individuals reported, note CNVs common but LOF sequence variants identified too.",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:38:13.389944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JARID2: Added comment: 13 additional individuals reported, note CNVs common.; Changed rating: GREEN; Changed publications: 23294540, 33077894",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:35:15.335567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUDT2 were changed from Muscular hypotonia; Global developmental delay; Intellectual disability to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:34:51.704277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUDT2 were set to 27431290; 30059600",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:34:30.809224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Green List (high evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:34:30.798863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:34:14.615569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUDT2: Added comment: Three individuals from two additional families reported with a different homozygous variant and ID/polyneuropathy phenotype. Upgrade to Green.; Changed rating: GREEN; Changed publications: 27431290, 30059600, 33058507",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:33:52.660370+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUDT2 were changed from Muscular hypotonia; Global developmental delay; Intellectual disability to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:33:16.439478+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUDT2 were set to 27431290; 30059600",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:32:42.474590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Green List (high evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:32:42.465106+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:32:11.840884+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two additional families reported with a different homozygous variant and ID/polyneuropathy phenotype. Upgrade to Green.; to: Three individuals from two additional families reported with a different homozygous variant and ID/polyneuropathy phenotype. Upgrade to Green.",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:31:52.559266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUDT2: Added comment: Two additional families reported with a different homozygous variant and ID/polyneuropathy phenotype. Upgrade to Green.; Changed rating: GREEN; Changed publications: 27431290, 30059600, 33058507; Changed phenotypes: Muscular hypotonia, Global developmental delay, Intellectual disability, Polyneuropathy",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:28:39.694609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar.; to: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:28:16.117937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AFF2: Changed publications: 8334699, 21739600, 22773736",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:27:49.975696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFF2 as ready",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:27:49.966138+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Green List (High Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:27:36.425422+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFF2 were changed from to Mental retardation, X-linked, FRAXE type 309548",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:26:37.087405+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFF2 were set to ",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:26:02.100525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:25:30.771172+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8334699, 21739600, 22773736; Phenotypes: Mental retardation, X-linked, FRAXE type 309548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:21:57.628093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AFF2.\nTag STR tag was added to gene: AFF2.",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:21:29.497929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFF2 as ready",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:21:29.489930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aff2 has been classified as Green List (High Evidence).",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:21:22.821173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFF2 were changed from to Mental retardation, X-linked, FRAXE type 309548",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:21:02.451147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFF2 were set to ",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:20:43.030239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:20:24.296606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: AFF2: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar.",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T11:17:39.353296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8334699, 21739600; Phenotypes: Mental retardation, X-linked, FRAXE type 309548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T09:00:15.591830+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "gene: AFF2 was added\ngene: AFF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548\nAdded comment: Mechanism of disease is triplet repeat expansion. FRAXE less severe and much rarer than FRAXA. Excluded from MM screening panel on technical grounds. \nSources: Expert Review",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2020-10-21T07:54:07.016765+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1E1 as ready",
"entity_name": "ATP6V1E1",
"entity_type": "gene"
},
{
"created": "2020-10-21T07:54:07.005963+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1e1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1E1",
"entity_type": "gene"
},
{
"created": "2020-10-21T06:33:09.689813+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: KANSL1.",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-10-21T06:32:47.971616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: KANSL1.",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:22:47.645910+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUTS2 as ready",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:22:47.634468+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Green List (High Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:22:03.691160+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from to Mental retardation, autosomal dominant 26, MIM#615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:21:39.118399+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUTS2 were set to ",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:21:23.394617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUTS2 as ready",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:21:23.380426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Green List (High Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:21:09.139608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:20:39.540166+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AUTS2.",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:20:29.616804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332918, 25205402, 31474318; Phenotypes: Mental retardation, autosomal dominant 26, MIM#615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:20:22.300395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from to Mental retardation, autosomal dominant 26, MIM#615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:20:09.649590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUTS2 were set to ",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:19:46.063062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:19:44.878421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:19:27.691950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AUTS2.",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:19:15.879786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332918, 25205402, 31474318; Phenotypes: Mental retardation, autosomal dominant 26, MIM#615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:16:54.758733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:16:54.750960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:16:46.359105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome (MIM#235730)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:16:21.023455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:15:52.227870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:15:18.396934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:14:42.766405+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:14:42.755944+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:14:40.182380+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome (MIM#235730)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:14:08.766419+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:13:41.187245+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:13:10.247170+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:12:18.392963+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:12:18.384400+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:12:15.539288+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome (MIM#235730)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:11:46.852259+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:11:21.438862+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:10:52.415685+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:10:25.837591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome (MIM#235730)",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:10:00.550140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:09:27.411419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:08:39.159112+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITSN2 as ready",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:08:39.151796+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn2 has been classified as Green List (High Evidence).",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:08:34.967536+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITSN2 as Green List (high evidence)",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:08:34.959614+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn2 has been classified as Green List (High Evidence).",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:07:58.444070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITSN2 as ready",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:07:58.435795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn2 has been classified as Green List (High Evidence).",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:07:50.356260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITSN2 as Green List (high evidence)",
"entity_name": "ITSN2",
"entity_type": "gene"
},
{
"created": "2020-10-20T21:07:50.344788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itsn2 has been classified as Green List (High Evidence).",
"entity_name": "ITSN2",
"entity_type": "gene"
}
]
}