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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=942",
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"results": [
{
"created": "2022-03-11T17:26:26.502347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf6 has been classified as Red List (Low Evidence).",
"entity_name": "KLF6",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:26:14.144317+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLF6 as Red List (low evidence)",
"entity_name": "KLF6",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:26:14.134773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf6 has been classified as Red List (Low Evidence).",
"entity_name": "KLF6",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:25:40.191747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KLF6",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:24:03.988637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHDC8B as ready",
"entity_name": "KLHDC8B",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:24:03.977478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhdc8b has been classified as Red List (Low Evidence).",
"entity_name": "KLHDC8B",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:23:53.467488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHDC8B were changed from to {Hodgkin lymphoma, susceptibility to} 236000",
"entity_name": "KLHDC8B",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:23:24.474110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHDC8B as Red List (low evidence)",
"entity_name": "KLHDC8B",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:23:24.462821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhdc8b has been classified as Red List (Low Evidence).",
"entity_name": "KLHDC8B",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:22:58.908048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHDC8B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hodgkin lymphoma, susceptibility to} 236000; Mode of inheritance: None",
"entity_name": "KLHDC8B",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:19:47.767150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL10 as ready",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:19:47.756906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:19:31.382292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL10 were changed from to Spermatogenic failure 11, MIM# 615081",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:19:08.596536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL10 were set to ",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:18:46.720611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:18:25.214264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL10 as Amber List (moderate evidence)",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:18:25.202724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T17:18:05.849983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17047026, 15136734, 31479588; Phenotypes: Spermatogenic failure 11, MIM# 615081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLHL10",
"entity_type": "gene"
},
{
"created": "2022-03-11T13:30:51.233353+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-03-11T13:30:16.007050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-03-11T13:29:54.726209+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-03-11T13:29:11.207629+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-03-11T13:28:19.044776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-03-11T13:27:53.903306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:43:02.117687+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.42",
"user_name": "Yu Leng Phua",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:42:56.754680+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.42",
"user_name": "Yu Leng Phua",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:35:27.280957+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TLN1 as ready",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:35:27.265956+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:35:20.727990+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TLN1 as Amber List (moderate evidence)",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:35:20.718625+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:33:08.452527+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TLN1 was added\ngene: TLN1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TLN1 were set to 30888838\nPhenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TLN1 was set to AMBER\nAdded comment: 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. \nSources: Literature",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:28:39.417323+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.42",
"user_name": "Yu Leng Phua",
"item_type": "entity",
"text": "reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 35211789; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DZIP1L",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:27:23.660239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TLN1 as ready",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:27:23.644415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:24:10.195383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TLN1 as Amber List (moderate evidence)",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:24:10.185940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:22:15.589116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TLN1 was added\ngene: TLN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TLN1 were set to 30888838\nPhenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TLN1 was set to AMBER\nAdded comment: 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. \nSources: Literature",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2022-03-11T11:00:05.833831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11267",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: AMBER; Mode of pathogenicity: None; Publications: 11310630, 19807691, 32275776; Phenotypes: ?N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:59.474363+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.9",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NAT8L was added\ngene: NAT8L was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:52.781853+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4546",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NAT8L was added\ngene: NAT8L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:47.330517+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.113",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NAT8L was added\ngene: NAT8L was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:39.938814+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NAT8L was added\ngene: NAT8L was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:22.724227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLK1 as ready",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:22.712768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk1 has been classified as Red List (Low Evidence).",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:59:14.523364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLK1 were changed from to [Kallikrein, decreased urinary activity of] 615953",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:58:54.300397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLK1 as Red List (low evidence)",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:58:54.290308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klk1 has been classified as Red List (Low Evidence).",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:58:36.556046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Kallikrein, decreased urinary activity of] 615953; Mode of inheritance: None",
"entity_name": "KLK1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:56:45.910192+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLKB1 as ready",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:56:45.900540+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klkb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:55:24.092348+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLKB1 as Amber List (moderate evidence)",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:55:24.082968+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klkb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:54:47.927831+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLKB1 was added\ngene: KLKB1 was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLKB1 were set to 15461630; 33073460\nPhenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, MIM# 612423\nReview for gene: KLKB1 was set to AMBER\nAdded comment: Prolonged aPTT, but asymptomatic, hence some variants have a high gnomad frequency. \nSources: Expert Review",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:53:49.275208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLKB1 as ready",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:53:49.265230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klkb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:53:41.536460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLKB1 were changed from to Fletcher factor (prekallikrein) deficiency, MIM# 612423",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:53:19.350350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLKB1 were set to ",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:52:53.607654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLKB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:52:02.322133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLKB1 as Amber List (moderate evidence)",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:52:02.307884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klkb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:51:44.070711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15461630, 33073460; Phenotypes: Fletcher factor (prekallikrein) deficiency, MIM# 612423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:47:37.395493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT1 as ready",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:47:37.381671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt1 has been classified as Green List (High Evidence).",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:47:29.165896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT1 were changed from to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:47:07.568130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT1 were set to ",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:46:42.299672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:46:22.926248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7511022, 21271994, 11286630; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590, Palmoplantar keratoderma, epidermolytic, MIM# 144200, Palmoplantar keratoderma, nonepidermolytic, MIM# 600962; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:40:56.376359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT12 as ready",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:40:56.363652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt12 has been classified as Green List (High Evidence).",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:40:48.865926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT12 were changed from to Meesmann corneal dystrophy 1, MIM# 122100",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:39:59.088896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT12 were set to ",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:39:36.564252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:39:14.029469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 22174841; Phenotypes: Meesmann corneal dystrophy 1, MIM# 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:38:04.144946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11255",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NAT2: Rating: RED; Mode of pathogenicity: None; Publications: 22409928, 33932406; Phenotypes: [Acetylation, slow] - MIM#243400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAT2",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:12:42.516420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TSR1 as ready",
"entity_name": "TSR1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:12:42.499907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsr1 has been classified as Red List (Low Evidence).",
"entity_name": "TSR1",
"entity_type": "gene"
},
{
"created": "2022-03-11T10:10:08.137955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSR1 was added\ngene: TSR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSR1 were set to 31296288; 31296287\nPhenotypes for gene: TSR1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TSR1 was set to RED\nAdded comment: A single case-control study with 85 SCAD cases and 296 non-SCAD controls from the Chinese Han population that underwent exome sequencing. TSR1 was the top hit in association analyses (p < 5.41 × 10-5 in both the optimal sequence kernel association and mixed effects score tests), with 5 variants identified in 8 SCAD cases. \nSources: Literature",
"entity_name": "TSR1",
"entity_type": "gene"
},
{
"created": "2022-03-10T21:07:35.215386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM151A as ready",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T21:07:35.201458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem151a has been classified as Green List (High Evidence).",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T21:06:12.111276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM151A as Green List (high evidence)",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T21:06:12.097253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem151a has been classified as Green List (High Evidence).",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T21:05:49.719726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM151A was added\ngene: TMEM151A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM151A were set to 34820915; 34518509\nPhenotypes for gene: TMEM151A were set to episodic kinesigenic dyskinesia MONDO:0044202\nReview for gene: TMEM151A was set to GREEN\nAdded comment: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families \r\nPMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease. \nSources: Literature",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T21:04:08.835506+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM151A were changed from Paroxysmal Kinesigenic Dyskinesia to Paroxysmal Kinesigenic Dyskinesia; episodic kinesigenic dyskinesia MONDO:0044202",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T20:58:24.676342+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM151A as Green List (high evidence)",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T20:58:24.671939+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families\r\nPMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease.",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T20:58:24.597414+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem151a has been classified as Green List (High Evidence).",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-10T16:08:53.809630+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6AP2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-03-10T14:42:59.576289+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.98",
"user_name": "Shekeeb S",
"item_type": "entity",
"text": "gene: TMEM151A was added\ngene: TMEM151A was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM151A were set to 34820915; 34518509\nPhenotypes for gene: TMEM151A were set to Paroxysmal Kinesigenic Dyskinesia\nReview for gene: TMEM151A was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TMEM151A",
"entity_type": "gene"
},
{
"created": "2022-03-09T20:01:05.807534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT13 as ready",
"entity_name": "KRT13",
"entity_type": "gene"
},
{
"created": "2022-03-09T20:01:05.794893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt13 has been classified as Green List (High Evidence).",
"entity_name": "KRT13",
"entity_type": "gene"
},
{
"created": "2022-03-09T20:00:29.904026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT13 were changed from to White sponge nevus 2, MIM# 615785",
"entity_name": "KRT13",
"entity_type": "gene"
},
{
"created": "2022-03-09T20:00:10.594416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT13 were set to ",
"entity_name": "KRT13",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:59:50.054298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT13",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:59:30.876332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT13: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493031, 14600690, 32758484, 29476668; Phenotypes: White sponge nevus 2, MIM# 615785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT13",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:56:03.768032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT16 as ready",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:56:03.757919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt16 has been classified as Green List (High Evidence).",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:55:56.017066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:55:34.869995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT16 were set to ",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:55:12.649408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-03-09T19:54:53.455301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT16",
"entity_type": "gene"
}
]
}