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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1879",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1877",
"results": [
{
"created": "2020-04-06T13:59:36.727171+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T13:59:19.929162+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: PDHA1 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: PDHA1 were set to 20002125\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170\nReview for gene: PDHA1 was set to GREEN\nAdded comment: At least four cases reported with dystonia as a feature of the condition. \nSources: Literature",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T13:36:35.866823+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PDHX as Green List (high evidence)",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2020-04-06T13:36:35.853892+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2020-04-06T13:36:21.780611+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDHX was added\ngene: PDHX was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHX were set to 20002125; 16566017; 17152059\nPhenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency\tMIM#245349\nReview for gene: PDHX was set to GREEN\nAdded comment: At least four cases reported with dystonia as a feature of the condition. \nSources: Expert list",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2020-04-06T13:10:50.302181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2013",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 15613420; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2020-04-06T13:07:08.292844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2013",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23695678, 26333996; Phenotypes: Lymphatic malformation 6, 616843, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:53:14.108360+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NKX2-1 as ready",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:53:14.095216+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:53:09.481411+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NKX2-1 as Green List (high evidence)",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:53:09.472418+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:52:43.554964+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-1 were set to 24714694; 30186310\nPhenotypes for gene: NKX2-1 were set to Chorea, hereditary benign MIM#118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978\nReview for gene: NKX2-1 was set to GREEN\nAdded comment: At least 7 cases with dystonia as a feature of the condition. \nSources: Expert list",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:49:35.002953+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: IL10RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset (613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:46:50.278612+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: IL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IL10",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:45:50.254318+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Chromosome Breakage Disorders. Sources: Expert list\nMode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865\nPhenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM#\t617883\nReview for gene: BRCA1 was set to GREEN\nAdded comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype. \nSources: Expert list",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:42:56.997473+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP53 as ready",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:42:56.986931+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp53 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:42:53.846161+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TP53 as Amber List (moderate evidence)",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:42:53.832728+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp53 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:42:25.789585+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TP53 were set to 30146126; 24013501; 23770245\nPhenotypes for gene: TP53 were set to Bone marrow failure syndrome 5, MIM#\t618165\nMode of pathogenicity for gene: TP53 was set to Other\nReview for gene: TP53 was set to AMBER\nAdded comment: Two unrelated individuals with de novo variants in this gene, both resulted in the same truncation of the protein with a loss of 32 residues from the C-terminal end (Ser362AlafsTer8). The deletion is postulated to compromise binding of negative transcriptional regulators, resulting in augmented p53 function, not loss of function. Mouse models with animals lacking the C-terminal end of Tp53 show similar abnormalities. \nSources: Expert list",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:33:34.656427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMD9L as ready",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:33:34.642174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9l has been classified as Green List (High Evidence).",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:33:24.493413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMD9L were changed from to Ataxia-pancytopenia syndrome, MIM# 159550",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:33:10.084759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMD9L were set to ",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:32:54.797366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SAMD9L was changed from to Other",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:32:40.250792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAMD9L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:32:19.967946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SAMD9L: Changed mode of pathogenicity: Other",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:32:08.283384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259050, 30923096, 30322869; Phenotypes: Ataxia-pancytopenia syndrome, MIM# 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:31:14.679728+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMD9L as ready",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:31:14.665891+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9l has been classified as Green List (High Evidence).",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:30:56.757007+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAMD9L as Green List (high evidence)",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:30:56.746494+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9l has been classified as Green List (High Evidence).",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:30:25.727057+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9L was added\ngene: SAMD9L was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SAMD9L were set to 27259050; 30923096; 30322869\nPhenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM#\t159550\nMode of pathogenicity for gene: SAMD9L was set to Other\nReview for gene: SAMD9L was set to GREEN\nAdded comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism. \nSources: Expert list",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:24:36.423815+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPV17 were set to 29282788\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810\nReview for gene: MPV17 was set to RED\nAdded comment: Dystonia is not a prominent feature of the condition. It has been reported in 4/91 (4%) of cases. There are other features that are more prominent. \nSources: Expert list",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:22:50.387415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFWD3 as ready",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:22:50.373900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:22:42.480528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFWD3 were changed from to Fanconi anemia, complementation group W, MIM# 617784",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:22:21.938084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFWD3 were set to ",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:22:02.087824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFWD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:21:43.683994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFWD3 as Red List (low evidence)",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:21:43.675024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:21:25.274961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:20:36.230894+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFWD3 as ready",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:20:36.222634+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:20:28.407954+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFWD3 as ready",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:20:28.395204+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfwd3 has been classified as Red List (Low Evidence).",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:20:20.977284+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFWD3 was added\ngene: RFWD3 was added to Chromosome Breakage Disorders. Sources: Expert list\nMode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFWD3 were set to 28691929\nPhenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM#\t617784\nReview for gene: RFWD3 was set to RED\nAdded comment: Single family reported, functional data. \nSources: Expert list",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:19:10.740798+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFWD3 was added\ngene: RFWD3 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFWD3 were set to 28691929\nPhenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM#\t617784\nReview for gene: RFWD3 was set to RED\nAdded comment: Single family reported, functional data \nSources: Expert list",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:18:47.418703+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22564885 (review), 12975158, 20499493, 10893071; Phenotypes: Incontinentia pigmenti (308300), / Ectodermal dysplasia and immunodeficiency 1 (300291), Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301), Immunodeficiency 33 (300636), Immunodeficiency, isolated (300584), Invasive pneumococcal disease, recurrent isolated 2 (300640); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:15:45.900236+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMADHC were set to 15292234; 18385497\nPhenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410\nReview for gene: MMADHC was set to RED\nAdded comment: Single case reported with dystonia as a feature of the condition. \nSources: Expert list",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:14:20.637308+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAD2L2 as ready",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:14:20.623433+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mad2l2 has been classified as Red List (Low Evidence).",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:14:14.645132+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAD2L2 was added\ngene: MAD2L2 was added to Chromosome Breakage Disorders. Sources: Expert list\nMode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAD2L2 were set to 27500492\nPhenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM#\t617243\nReview for gene: MAD2L2 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:12:23.794464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAD2L2 as ready",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:12:23.781265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mad2l2 has been classified as Red List (Low Evidence).",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:12:11.249756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAD2L2 was added\ngene: MAD2L2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAD2L2 were set to 27500492\nPhenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM#\t617243\nReview for gene: MAD2L2 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:10:41.566098+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAD2L2 as ready",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:10:41.556553+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mad2l2 has been classified as Red List (Low Evidence).",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:10:34.039215+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAD2L2 was added\ngene: MAD2L2 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAD2L2 were set to 27500492\nPhenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM#\t617243\nReview for gene: MAD2L2 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:05:22.216934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:05:22.203647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:04:35.232638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:04:16.113153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2T were set to ",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:03:55.833427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:03:38.050054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Amber List (moderate evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:03:38.040584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:03:13.047654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:02:23.559749+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:02:23.551041+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:02:18.419009+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:01:47.538187+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2T were set to ",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:01:17.295585+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:00:49.859023+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Amber List (moderate evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:00:49.849971+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T12:00:06.802712+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:58:52.043017+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:58:52.034153+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:58:48.204480+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Amber List (moderate evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:58:48.191908+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:58:20.309474+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE2T were set to 26046368\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM#\t616435\nReview for gene: UBE2T was set to AMBER\nAdded comment: Two unrelated families reported, one of the variants was a large deletion. \nSources: Expert list",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:54:42.086252+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAT1A was added\ngene: MAT1A was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAT1A were set to 8770875\nPhenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850\nReview for gene: MAT1A was set to RED\nAdded comment: Single case reported with dystonia a feature of the condition. \nSources: Expert list",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:50:53.422886+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:50:53.413694+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:50:49.808101+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:50:49.799840+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:50:22.921159+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865\nPhenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM#\t617883\nReview for gene: BRCA1 was set to GREEN\nAdded comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype. \nSources: Expert list",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:47:48.488195+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:47:48.479369+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:47:45.159290+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MARS2 as Green List (high evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:47:45.154921+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Large duplications that are not detected by WES are the only reported cause of the form of spastic ataxia caused by this gene.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:47:45.132531+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:46:03.359317+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MARS2.",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:45:52.507793+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARS2 was added\ngene: MARS2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MARS2 were set to 16672289; 22448145\nPhenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390\nReview for gene: MARS2 was set to GREEN\nAdded comment: 57% of 23 cases from 17 French-Canadian spastic ataxia families had dystonia as a feature of the condition. \nSources: Expert list",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:35:35.791595+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: ICOS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Common variable immunodeficiency 1 (604558); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:32:47.822771+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAPT was added\ngene: MAPT was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: MAPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPT were set to 17319286; 15883319\nPhenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism MIM#600274\nReview for gene: MAPT was set to AMBER\nAdded comment: Dystonia has been reported in two cases. Cannot find evidence that dystonia is a prominent feature associated with MAPT variants. \nSources: Expert list",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:13:41.728114+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: L2HGDH as ready",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:13:41.712297+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:13:37.942816+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: L2HGDH as Green List (high evidence)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:13:37.934351+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-04-06T11:13:25.924803+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: L2HGDH were set to 24753671; 18780161; 15824270; 10399870\nPhenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792\nReview for gene: L2HGDH was set to GREEN\nAdded comment: Four families with dystonia as a feature of the condition. \nSources: Expert list",
"entity_name": "L2HGDH",
"entity_type": "gene"
}
]
}