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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1359",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1357",
"results": [
{
"created": "2021-04-09T13:53:38.624668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7080",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFB7 was added\ngene: NDUFB7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB7 were set to 33502047; 27626371\nPhenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy\nReview for gene: NDUFB7 was set to AMBER\nAdded comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly. \nSources: Literature",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:36:50.468119+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CELA3B as ready",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:36:50.456237+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cela3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:36:46.568386+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CELA3B as Amber List (moderate evidence)",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:36:46.557793+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cela3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:36:24.152749+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CELA3B was added\ngene: CELA3B was added to Pancreatitis. Sources: Literature\nMode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELA3B were set to 31369399; 33565216\nPhenotypes for gene: CELA3B were set to Chronic pancreatitis\nMode of pathogenicity for gene: CELA3B was set to Other\nReview for gene: CELA3B was set to AMBER\nAdded comment: PMID: 33565216 - p.Arg90Cys (c.268C>T) identified in a chronic pancreatitis (also diabetes and pancreatic adenocarcinoma present in some individuals) pedigree. Variant was present in 2 affected individuals and not present in 7 healthy relatives. Also, supporting in vitro functional assays demonstrating gain of function mechanism for R90C and R90L, and supporting mouse model. PMID: 31369399 - p.Arg90Leu (c.269G>T) identified in 4 French chronic pancreatitis cases and 0 controls. However, there are 229 hets in gnomAD v2.1 with this variant. \nSources: Literature",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:30:47.485138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7079",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CELA3B as ready",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:30:47.476812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7079",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cela3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:28:23.370809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7079",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CELA3B as Amber List (moderate evidence)",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:28:23.361588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7079",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cela3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:28:03.402120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH11 as ready",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:28:03.389525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh11 has been classified as Green List (High Evidence).",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:27:54.987374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH11 were changed from to Elsahy-Waters syndrome, MIM# 211380; Teebi hypertelorism syndrome",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:27:34.466132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH11 were set to ",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:27:15.239854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:26:55.998486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811546, 27431290, 28988429, 29271567, 33811546; Phenotypes: Elsahy-Waters syndrome, MIM# 211380, Teebi hypertelorism syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:26:48.532903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7075",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CELA3B was added\ngene: CELA3B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELA3B were set to 31369399; 33565216\nPhenotypes for gene: CELA3B were set to Chronic pancreatitis\nMode of pathogenicity for gene: CELA3B was set to Other\nReview for gene: CELA3B was set to AMBER\nAdded comment: PMID: 33565216 - p.Arg90Cys (c.268C>T) identified in a chronic pancreatitis (also diabetes and pancreatic adenocarcinoma present in some individuals) pedigree. Variant was present in 2 affected individuals and not present in 7 healthy relatives. Also, supporting in vitro functional assays demonstrating gain of function mechanism for R90C and R90L, and supporting mouse model.\r\nPMID: 31369399 - p.Arg90Leu (c.269G>T) identified in 4 French chronic pancreatitis cases and 0 controls. However, there are 229 hets in gnomAD v2.1 with this variant. \nSources: Literature",
"entity_name": "CELA3B",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:24:26.093191+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH11 as ready",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:24:26.081915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh11 has been classified as Green List (High Evidence).",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:24:22.220182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH11 were changed from to Elsahy-Waters syndrome, MIM# 211380; Teebi hypertelorism syndrome",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:22:59.454557+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH11 were set to ",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:19:28.049414+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T13:18:44.926967+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811546, 27431290, 28988429, 29271567; Phenotypes: Elsahy-Waters syndrome, MIM# 211380, Teebi hypertelorism syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:54:01.946982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A1 as ready",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:54:01.937118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:53:52.972173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC10A1 as Green List (high evidence)",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:53:52.961953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:53:35.186147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC10A1 was added\ngene: SLC10A1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC10A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A1 were set to 24867799; 27882152; 28835676; 29290974; 31201272\nPhenotypes for gene: SLC10A1 were set to Familial hypercholanemia-2, MIM#619256\nReview for gene: SLC10A1 was set to GREEN\nAdded comment: IEM characterised by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT). Some variants are recurrent (founder effect likely) but at least 3 different variants reported, mouse model. \nSources: Expert list",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:52:05.220860+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A1 as ready",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:52:05.211345+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:51:50.778485+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC10A1 as Green List (high evidence)",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:51:50.768524+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:51:40.271192+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC10A1 was added\ngene: SLC10A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC10A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A1 were set to 24867799; 27882152; 28835676; 29290974; 31201272\nPhenotypes for gene: SLC10A1 were set to Familial hypercholanemia-2, MIM#619256\nReview for gene: SLC10A1 was set to GREEN\nAdded comment: IEM characterised by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT).\r\n\r\nSome variants are recurrent (founder effect likely) but at least 3 different variants reported, mouse model. \nSources: Expert list",
"entity_name": "SLC10A1",
"entity_type": "gene"
},
{
"created": "2021-04-09T11:41:45.315921+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.260",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050, Macular degeneration, early-onset MIM#616118; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2021-04-09T10:59:13.228473+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3606",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33811546; Phenotypes: Teebi hypertelorism syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:42:45.163693+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:42:45.146292+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:42:21.092486+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from Fabry disease, MIM# 301500 to Fabry disease, MIM# 301500; MONDO:0010526",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:41:24.403377+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:40:48.080427+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLA were set to ",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:40:23.287578+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:39:40.874653+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28613767, 33673160; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:34:43.847411+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:34:43.836788+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:34:37.393451+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:34:03.259945+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2021-04-09T07:33:26.319156+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:17:05.226590+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNS as ready",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:17:05.217282+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galns has been classified as Green List (High Evidence).",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:17:02.234382+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:16:22.168415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNS as ready",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:16:22.155810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galns has been classified as Green List (High Evidence).",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:16:15.154389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:15:56.721957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALNS were set to ",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:15:34.372026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:15:15.505153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:15:01.276411+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALNS were set to ",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:14:35.447767+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T21:14:07.069309+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:54:57.788545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:54:57.778956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:54:49.791813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:54:32.360385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALC were set to ",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:54:14.058053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:53:54.834783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:53:37.635208+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:53:37.623341+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:53:18.796490+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:52:48.269864+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALC were set to ",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:52:16.714166+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:51:49.269819+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:48:45.112424+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from Glycogen storage disease II (MIM#232300) to Glycogen storage disease II (MIM#232300); MONDO:0009290",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:47:54.887327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM# 232300 to Glycogen storage disease II, MIM# 232300; MONDO:0009290",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:43:50.838408+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:43:50.829654+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:43:14.804871+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM# 232300; MONDO:0009290",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:42:50.139898+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAA were set to ",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:42:30.327360+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T20:41:33.683464+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917947; Phenotypes: Glycogen storage disease II, MIM# 232300, MONDO:0009290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:10:19.553790+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:10:19.543424+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:10:17.170865+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:09:54.075364+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUCA1 were set to ",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:09:32.000128+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:09:06.709750+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:08:18.886331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:08:18.877695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:07:51.021123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:07:33.660326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUCA1 were set to ",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:07:14.785079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:06:55.906769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:06:03.483313+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:06:03.465816+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:05:57.477597+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:05:33.228859+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUCA1 were set to ",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:05:03.727451+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:04:23.829709+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:01:10.845250+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC5 as ready",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:01:10.834824+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc5 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:01:05.391894+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJC5 were set to ",
"entity_name": "DNAJC5",
"entity_type": "gene"
}
]
}