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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=506",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=504",
"results": [
{
"created": "2023-12-15T13:57:29.675517+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRUNE1 as ready",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:57:29.647351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prune1 has been classified as Green List (High Evidence).",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:57:03.002913+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRUNE1 as Green List (high evidence)",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:57:02.987918+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prune1 has been classified as Green List (High Evidence).",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:56:07.287866+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS15A as ready",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:56:07.268606+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps15a has been classified as Red List (Low Evidence).",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:55:50.317928+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL35 as ready",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:55:50.303931+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl35 has been classified as Red List (Low Evidence).",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:55:33.694268+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS28 as ready",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:55:33.677480+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:55:13.187526+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL8 as ready",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:55:13.171973+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:54:56.597200+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL18 as ready",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:54:56.583766+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:46:24.685163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP1LC3B2 as ready",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:46:24.663087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1lc3b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:46:13.232686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP1LC3B2 was added\ngene: MAP1LC3B2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP1LC3B2 were set to 35748970; 33310865\nPhenotypes for gene: MAP1LC3B2 were set to Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related; Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2\nReview for gene: MAP1LC3B2 was set to RED\nAdded comment: PMID: 35748970 Affects CNS (resident cells and fibroblasts) Impaired autophagy induction after HSV2 infection - increased viral replication and apoptosis of patient fibroblasts.\r\n\r\nPMID: 33310865 one affected individual with heterozygous variant in MAP1LC3B2 (p.L109M) \nSources: Expert Review",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:43:37.885080+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP1LC3B2 as ready",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:43:37.854048+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1lc3b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:43:32.873008+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1LC3B2 were changed from Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 to Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related; Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:39:16.668623+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAP1LC3B2 as Red List (low evidence)",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:39:16.659473+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1lc3b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:35:30.896698+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXAS1 as ready",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:35:30.882551+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:35:03.635569+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNASE2 as ready",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:35:03.612981+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnase2 has been classified as Green List (High Evidence).",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:34:06.410087+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPIG6B as ready",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:34:06.395073+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpig6b has been classified as Green List (High Evidence).",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:33:46.481987+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:33:46.450171+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:33:22.561659+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELF4 as ready",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:33:22.552087+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elf4 has been classified as Green List (High Evidence).",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:33:17.943406+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELF4 as Green List (high evidence)",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:33:17.934375+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elf4 has been classified as Green List (High Evidence).",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:32:28.970405+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:32:28.958691+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:31:51.252326+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBN as ready",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:31:51.241017+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbn has been classified as Green List (High Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:31:21.899385+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU7-1 as ready",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:31:21.891090+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:31:12.054985+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2023-12-15T13:31:12.041500+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2023-12-15T10:33:18.821722+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: ALG12 was added\ngene: ALG12 was added to Genetic Epilepsy. Sources: NHS GMS,Literature\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG12 were set to (PMID: 33618527)\nPhenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; OMIM: 607144\nReview for gene: ALG12 was set to RED\nAdded comment: Causes AR congenital disorder of gylcosolation type Ig. Listed as red list on panel app UK for Genetic Epilepsy. Epilepsy/ seizures not reported on OMIM phenotype. Seizure listed on Gene-reviews under CDG Ig however citations for this are linked to papers about CDG overall/ biochemical evidence rather than ALG12 variants. Pubmed search for \"ALG12\" and \"epilepsy\" shows no results. Search for \"ALG12\" and \"seizure\" linked to one paper only (PMID: 33618527), again only mention of seizure in this paper is related to CDGs in general and not a specific patient with ALG12/ CDG Type Ig. No established evidence of seizures or epilepsy in ALG12/ CDG type Ig phenotype. \nSources: NHS GMS, Literature",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2023-12-15T10:13:41.622295+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: ASXL3 was added\ngene: ASXL3 was added to Genetic Epilepsy. Sources: NHS GMS,ClinGen,Literature\nMode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASXL3 were set to PMID:33151654; 34436830; 29367179\nPhenotypes for gene: ASXL3 were set to Bainbridge-Ropers syndrome, OMIM:615115\nReview for gene: ASXL3 was set to GREEN\nAdded comment: Listed as Green entity on panel app uk. De novo loss of function variants and dominant negative variants reported. 1/3rd of patients with epilepsy according to Clingen and Genereviews. 11/39 phenotyped patients in a large cohort (PMID: 34436830) had seizures. Various types - absence, GTC, onset in pediatric age group or adult. Generally treatment responsive. Some adults with intractable difficult to treat seizures. Smaller cohort of 3 unrelated individuals (29367179) with seizures, 2 had PTC variants and 1 patient had a splice variant. \nSources: NHS GMS, ClinGen, Literature",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2023-12-14T16:57:26.679497+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: None; Publications: 36849228, 30120216, 32843486; Phenotypes: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, MIM#618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC2L",
"entity_type": "gene"
},
{
"created": "2023-12-14T16:38:10.583030+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36549593; Phenotypes: Neurodevelopmental disorder, TRA2B-related (MONDO#0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-12-14T16:30:10.294407+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: None; Publications: 35455965, 35953447; Phenotypes: Leukodystrophy, hypomyelinating, 25 MIM#620243; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2023-12-14T12:35:10.261229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: BICD2 were set to PMID: 35896821, PMID: 28635954, PMID: 32057122, PMID: 25497877, PMID: 35338243\nPhenotypes for gene: BICD2 were set to spinal muscular atrophy MONDO:0001516\nReview for gene: BICD2 was set to AMBER\nAdded comment: mostly AD cases reported, new more severe presentation reported x2 with biallelic variants: seizures part of the AR phenotype in both cases \r\n\r\nFrom the literature of AD SMA cases:\r\nPMID: PMID: 32057122 2x patients from same family with seizures as part of the phenotype \r\nPMID: 28635954 patient suspected clinically as having seizures but not proven\r\nPMID: 25497877 large cohort (N=32 patients from 9 families) no seizures \nSources: Expert list",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2023-12-14T12:08:01.651471+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: BCKDK was added\ngene: BCKDK was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDK were set to PMID: 22956686, PMID: 35216372, PMID: 36729635\nPhenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency\tMIM#614923\nReview for gene: BCKDK was set to GREEN\nAdded comment: Epilepsy well reported part of this phenotype \nSources: Expert list",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2023-12-14T11:59:42.343579+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.110",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "edited their review of gene: DUOX2: Added comment: 1mo girl with IBD and colonic polyps with compound het variants c.2524C>T and c.3175C>T with functional studies showing decreased H2O2 generation.\r\nThis case along with previous case reports - PMID: 28683258 & PMID: 35429653 suggest that biallelic DUOX2 variants should be part of evaluation for VEO-IBD.; Changed rating: GREEN; Changed publications: PMID: 38075699; Changed phenotypes: neonatal onset IBD",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2023-12-14T11:47:38.420386+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: B4GAT1 was added\ngene: B4GAT1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GAT1 were set to PMID 23877401, PMID: 23359570\nPhenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287\nReview for gene: B4GAT1 was set to AMBER\nAdded comment: PMID 23877401 multiple family members affected, 1 with seizures\r\nPMID: 23359570 affected 2yo with seizures \nSources: Expert list",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2023-12-14T11:39:02.991926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: B3GALNT2 was added\ngene: B3GALNT2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GALNT2 were set to PMID: 29791932, PMID: 29273094, PMID: 35127920\nPhenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181\nReview for gene: B3GALNT2 was set to GREEN\nAdded comment: Severe congenital muscular dystrophy and ID phenotype. Seizures not consistent feature with early phenotypic reports\r\nPMID: 29791932 epileptic encephalopathy \r\nPMID: 29273094 5 individuals with ID and seizures from single large consanguineous family but they had no or mild muscle symptoms so quite different from previously reported phenotype\r\nPMID: 35127920 not a great article but does have a table summarising the previous cases and 9/21 had seizures. \nSources: Expert list",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2023-12-13T17:29:05.542616+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: PRUNE1 was added\ngene: PRUNE1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRUNE1 were set to PMID: 28334956; 26539891; 30556349; 29940663; 29797509\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481\nReview for gene: PRUNE1 was set to GREEN\nAdded comment: PRUNE1 is associated with neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (MIM#617481). Seizures are a listed phenotype in OMIM in some patients.\r\n- Seizures were seen in 6/13 individuals (PMID:28334956) from Oman, Iran, India and Italy, the variants identified in individuals with seizures were absent from gnomAD besides the commonly reported Asp109Asn variant (41 hets, 0 Homs in V4) which has also been extensively reported in ClinVar (10x pathogenic reports). \r\n- Seizures were also reported in 7/9 Cree children from the Canadian province of Manitoba (PMID:30556349), they all shared a likely founder homozygous c.521-2A>G splicing variant. The normally spliced product was absent in RNA prepared from two individuals with exon 5 skipping or multiple exon skipping leading to a frameshift and premature termination observed as outcomes of this variant.\r\n- Epilepsy was reported in 11/12 unrelated individuals (paediatric patients with neurological symptoms from Munich) with bi-allelic variants in PRUNE1 (PMID:29940663). \nSources: Literature",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:44:41.030978+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.79",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RPS15A was added\ngene: RPS15A was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS15A were set to PMID: 27909223\nPhenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313\nReview for gene: RPS15A was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:41:43.938469+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RPL35 was added\ngene: RPL35 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL35 were set to PMID: 28280134\nPhenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312\nReview for gene: RPL35 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:40:06.287787+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RPS28 as Amber List (moderate evidence)",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:40:06.276219+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:39:38.795900+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RPS28 was added\ngene: RPS28 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS28 were set to PMID: 24942156\nPhenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164\nReview for gene: RPS28 was set to AMBER\nAdded comment: Two individuals reported in 2014, none since. \nSources: Expert list",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:37:53.633070+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.75",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RPL8 as Amber List (moderate evidence)",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:37:53.620855+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.75",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rpl8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:37:07.116787+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.74",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RPL8 was added\ngene: RPL8 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL8 were set to PMID: 25424902, 34961992\nPhenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253\nReview for gene: RPL8 was set to AMBER\nAdded comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production. \nSources: Literature",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:35:44.278670+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.73",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RPL18 as Amber List (moderate evidence)",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:35:44.266724+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.73",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:35:11.750933+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.72",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RPL18 was added\ngene: RPL18 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL18 were set to PMID: 28280134, 32075953\nPhenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310\nReview for gene: RPL18 was set to AMBER\nAdded comment: One family and a zebrafish model. \nSources: Expert list",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:23:43.273915+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.132",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MAP1LC3B2 was added\ngene: MAP1LC3B2 was added to Defects of innate immunity. Sources: Other\nMode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP1LC3B2 were set to 35748970; 33310865\nPhenotypes for gene: MAP1LC3B2 were set to Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2\nReview for gene: MAP1LC3B2 was set to RED\nAdded comment: Reviewed from PMID: 35748970\r\n\r\nNo published gene-disease association as of yet.\r\n\r\nAffects CNS (resident cells and fibroblasts)\r\nImpaired autophagy induction after HSV2 infection - increased viral replication and apoptosis of patient fibroblasts.\r\n\r\nPMID: 33310865\r\none affected individual with heterozygous mutation in MAP1LC3B2 (p.L109M) \nSources: Other",
"entity_name": "MAP1LC3B2",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:20:21.436888+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBXAS1 as Green List (high evidence)",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:20:21.426784+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:19:48.056651+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBXAS1 were set to PMID: 18264100\nPhenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM#231095\nReview for gene: TBXAS1 was set to GREEN\ngene: TBXAS1 was marked as current diagnostic\nAdded comment: Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Cases with severe anemia, leukopenia, thrombocytopenia, and hypocellular bone marrow. \nSources: Expert list",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:07:38.578673+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DNASE2 as Green List (high evidence)",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:07:38.570477+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnase2 has been classified as Green List (High Evidence).",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:06:37.324187+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.68",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DNASE2 was added\ngene: DNASE2 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNASE2 were set to PMID: 29259162, 31775019\nPhenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM#619858\nReview for gene: DNASE2 was set to GREEN\ngene: DNASE2 was marked as current diagnostic\nAdded comment: Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. \nSources: Expert list",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:04:03.110609+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.67",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MPIG6B as Green List (high evidence)",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:04:03.101586+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.67",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mpig6b has been classified as Green List (High Evidence).",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2023-12-13T10:03:30.959185+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MPIG6B was added\ngene: MPIG6B was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPIG6B were set to PMID: 31276734, 29898956, 27743390\nPhenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441\nReview for gene: MPIG6B was set to GREEN\ngene: MPIG6B was marked as current diagnostic\nAdded comment: Six families reported. \nSources: Expert list",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:57:24.189714+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ACTB as Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:57:24.178829+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:56:57.664472+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTB were set to PMID: 30315159\nPhenotypes for gene: ACTB were set to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475\nReview for gene: ACTB was set to GREEN\ngene: ACTB was marked as current diagnostic\nAdded comment: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy. \nSources: Expert list",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:55:41.312346+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.184",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ELF4 was added\ngene: ELF4 was added to Disorders of immune dysregulation. Sources: Other\nMode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ELF4 were set to 34326534, 35266071; 35748970\nPhenotypes for gene: ELF4 were set to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)\nReview for gene: ELF4 was set to GREEN\nAdded comment: Reviewed according to PMID: 35748970\r\n\r\nAIFBL2 is characterised by the onset of inflammatory symptoms in the first decade of life in males. Typically present with oral mucosal ulceration and skin inflammation however can present with decreased NK cells and low memory B cells. \r\nIndividuals typical have normal levels of serum IgM, G, A but reduced responses to live viral vaccines \r\n\r\nHemizygous mutations reported in at least 3 unrelated affected males with an autoinflammatory condition \nSources: Other",
"entity_name": "ELF4",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:24:06.899978+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TCN2 as Green List (high evidence)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:24:06.885689+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:23:46.671674+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TCN2 as Green List (high evidence)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:23:46.656199+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:22:54.466837+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to PMID: 24305960, 7980584, 7849710, 20352340, 18956254, 32841161, 33023511, 30124850\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, MIM#275350\nReview for gene: TCN2 was set to GREEN\ngene: TCN2 was marked as current diagnostic\nAdded comment: 26 pathogenic TCN2 variants have been reported in over 40 individuals; Bi-allelic (deletions, insertions, nonsense, mutations) variants have been reported; multiple mouse models\r\n\r\nTranscobalamin II deficiency is characterised by early onset (infancy) failure to thrive, megaloblastic anaemia, immunodeficiency and pancytopaenia. Other features include methylmalonic aciduria, recurrent infections, hypogammaglobulinaemia, pallor, hypotonia and vomiting and diarrhoea. Treatment with cobalamin (B12) may be of clinical benefit, but left untreated may result in intellectual disability and neurologic abnormalities. \nSources: Expert list",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:17:34.271614+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NBN as Green List (high evidence)",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:17:34.263568+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nbn has been classified as Green List (High Evidence).",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2023-12-13T09:16:44.069984+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBN were set to PMID: 11325820, 15338273, 33488600, 33082212\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260; Aplastic anemia, MIM#609135; Leukemia, acute lymphoblastic, MIM#613065\nReview for gene: NBN was set to GREEN\ngene: NBN was marked as current diagnostic\nAdded comment: The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. >100 patients reported. \nSources: Expert list",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2023-12-13T08:12:40.797317+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.30",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Other\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297; 35748970\nPhenotypes for gene: RNU7-1 were set to Aicardi-Goutieres syndrome 9 (MIM#619487)\nReview for gene: RNU7-1 was set to GREEN\nAdded comment: Reviewed from PMID: 35748970\r\n \r\nAicardi-Goutieres syndrome 9 (AGS9) is a type I interferonopathy typically caused by compound heterozygous mutations in RNU7-1\r\n\r\nPubMed: 33230297\r\n16 individuals from 11 families with AGS - all affected individuals had typical clinical features of AGS (elevated interferon score). \r\nRT-PCR functional assay on patient and control fibroblasts were conducted that showed a loss of function mechanism of disease. \nSources: Other",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2023-12-12T11:44:49.610431+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2023-12-12T11:43:11.778658+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37 - 619272, Epilepsy, Microcephaly, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2023-12-12T11:41:27.274454+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2023-12-12T11:39:16.965011+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: OSTC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oligosaccharyltransferase complex-congenital disorders of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:47:44.299699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STX1A were set to ",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:46:26.231824+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5E as ready",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:46:26.217422+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:46:08.044920+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5E as Amber List (moderate evidence)",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:46:08.031980+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:44:56.455217+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5G3 as ready",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:44:56.445592+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5g3 has been classified as Red List (Low Evidence).",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:44:49.640990+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5G3 as Red List (low evidence)",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:44:49.630066+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5g3 has been classified as Red List (Low Evidence).",
"entity_name": "ATP5G3",
"entity_type": "gene"
}
]
}