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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1760",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1758",
"results": [
{
"created": "2020-06-25T14:20:57.466193+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Uncertain\" by ClinGen. 3 unrelated individuals in PMID 25835445 but insufficient for the ClinGen working group.; to: \"Uncertain\" by ClinGen. 3 unrelated individuals in PMID 25835445 but this was insufficient for the ClinGen working group.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:20:07.752400+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: MYH11: Changed rating: GREEN",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:20:01.794116+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: ; Mode of pathogenicity: None; Publications: 30071989, 16444274, 17666408, 27081537; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM#160745; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:05:13.156816+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:05:07.107678+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: MYLK: Added comment: \"Definitive\" by Clingen Aortopathy Working Group.\r\n\r\nGreen on PanelApp UK.\r\n\r\nAssociation between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).; Changed rating: GREEN",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:04:43.293601+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Definitive\" by Clingen Aortopathy Working Group.\r\n\r\nGreen on PanelApp UK.\r\n\r\nAssociation between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).; to: \"Definitive\" by Clingen Aortopathy Working Group.\r\n\r\nGreen on PanelApp UK.\r\n\r\nAssociation between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:04:31.053090+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: ; Mode of pathogenicity: None; Publications: 30071989, 27586135, 21055718, 25907466; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#600922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:56:17.791882+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HARS as ready",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:56:17.780919+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hars has been classified as Amber List (Moderate Evidence).",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:56:13.959652+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HARS as Amber List (moderate evidence)",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:56:13.950180+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hars has been classified as Amber List (Moderate Evidence).",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:51:21.874755+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Not reviewed by ClinGen Aortopathy Working Group.\r\n\r\nNot on any relevant PanelApp UK panel.\r\n\r\n11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65. 5 individuals had aortic dilatation.; to: Not reviewed by ClinGen Aortopathy Working Group.\r\n\r\nNot on any relevant PanelApp UK panel although green on others.\r\n\r\n11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65. 5 individuals had aortic dilatation.",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:51:08.135256+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Not reviewed by ClinGen Aortopathy Working Group.\r\n\r\nNot on any relevant PanelApp UK panel.\r\n\r\n11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65. 5 individuals had aortic dilatation.; to: Not reviewed by ClinGen Aortopathy Working Group.\r\n\r\nNot on any relevant PanelApp UK panel.\r\n\r\n11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65. 5 individuals had aortic dilatation.",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:50:52.559728+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30343942; Phenotypes: Turnpenny-Fry syndrome, MIM#600346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:50:01.821244+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HARS were set to 32296180\nPhenotypes for gene: HARS were set to multisystem ataxic syndrome\nReview for gene: HARS was set to AMBER\nAdded comment: 3 cases from 2 unrelated families with biallelic variants and paediatric onset of progressive ataxic gait as a feature of the condition. \nSources: Literature",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:46:01.609910+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HARS as ready",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:46:01.589610+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hars has been classified as Amber List (Moderate Evidence).",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:45:51.755868+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HARS as Amber List (moderate evidence)",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:45:51.742973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hars has been classified as Amber List (Moderate Evidence).",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:40:20.513942+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2708",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HARS were set to 32296180\nPhenotypes for gene: HARS were set to multisystem ataxic syndrome; mild-severe intellectual disability\nReview for gene: HARS was set to AMBER\nAdded comment: 3 cases from 2 unrelated families with biallelic variants and mild to severe intellectual disability as a feature of the condition. \nSources: Literature",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:38:32.611651+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM#176894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:30:35.544299+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Limited\" evidence by ClinGen Aortopathy Working Group but:\r\n\r\n\"Diagnosis of Loeys-Dietz syndrome versus Shprintzen-Goldberg syndrome is thus important for correct management and risk stratification, and supports the conclusion that the gene for Shprintzen- Goldberg syndrome, SKI, should be included in diagnostic panels for characteristic syndromic presentations, especially in the pediatric setting.\"\r\n\r\n>20 individuals described in the context of Shprintzen-Goldberg syndrome which can involve aortic dilatations (PMID 23023332, 24736733); to: \"Limited\" evidence by ClinGen Aortopathy Working Group but:\r\n\r\n\"Diagnosis of Loeys-Dietz syndrome versus Shprintzen-Goldberg syndrome is thus important for correct management and risk stratification, and supports the conclusion that the gene for Shprintzen- Goldberg syndrome, SKI, should be included in diagnostic panels for characteristic syndromic presentations, especially in the pediatric setting.\"\r\n\r\n>20 individuals described in the context of Shprintzen-Goldberg syndrome which can involve aortic dilatations (PMID 23023332, 24736733)\r\n\r\nAlso Green on PanelApp UK",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:29:12.727622+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 23023332, 24736733; Phenotypes: Shprintzen-Goldberg syndrome, MIM#164780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:18:57.864480+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome MIM#606145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:16:50.554145+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 30071989; Classified as 'No Evidence' by Clingen for heritable thoracic aortic aneurysm and dissection\r\n\r\n\r\nGene reviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.\r\n(https://www.ncbi.nlm.nih.gov/books/NBK1244/); to: PMID: 30071989; Classified as 'No Evidence' by Clingen for heritable thoracic aortic aneurysm and dissection\r\n\r\n\r\nGeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.\r\n(https://www.ncbi.nlm.nih.gov/books/NBK1244/)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:16:36.678928+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989; Phenotypes: Heritable Thoracic Aortic Aneurysm and Dissection, Classic Ehlers-Danlos Syndrome (MIM# 130000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:13:06.546447+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:10:34.500738+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Hereditary thoracic aortic aneurysm and dissection; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:09:53.494459+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:09:41.286479+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Hereditary thoracic aortic aneurysm and dissection; Mode of inheritance: None",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:08:27.673080+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 25758994; Phenotypes: Ehlers-Danlos syndrome, vascular type, heritable thoracic aortic aneurysm and dissection; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:04:38.264362+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 28981071; Phenotypes: Classical Ehlers-Danlos Syndrome, arthrochalasia Ehlers-Danlos Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T13:01:36.285803+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 26838787, 30675029.; Phenotypes: Aortic aneurysm, familial thoracic 10 MIM#617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:56:40.531044+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:54:31.082894+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Limited evidence\" for association with aortic dilatation/dissection by ClinGen:\r\n\r\n\"Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1,\r\nSLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection.\"; to: \"Limited evidence\" for association with aortic dilatation/dissection by ClinGen:\r\n\r\n\"Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1,\r\nSLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection.\"\r\n\r\nThe ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and does not account for the reported individuals cited below.",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:51:18.046912+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Hereditary thoracic aortic aneurysm and dissection; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:39:10.873509+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 22772371; Phenotypes: Loeys-Dietz syndrome 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:33:59.516591+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25835445; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, Loeys-Dietz syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:18:39.871399+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 27879313; Phenotypes: Loeys-Dietz syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:15:57.044197+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 27879313; Phenotypes: Loeys-Dietz syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-06-25T12:12:39.247242+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T11:43:57.243306+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1S: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30071989, 27745832, 31921203; Phenotypes: Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-06-25T11:14:01.403294+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 27745832; Phenotypes: Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2020-06-25T11:06:06.217571+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30071989, 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T11:05:25.065034+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T11:05:18.417520+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: LOX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10 MIM#10617168; Mode of inheritance: None",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T11:04:57.809036+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:59:02.864181+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30724374; Phenotypes: hereditary thoracic aortic aneurysm and dissection; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:53:21.129724+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ABL1 was added\ngene: ABL1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ABL1 were set to PMID: 28288113\nPhenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome (MIM# 617602)\nPenetrance for gene: ABL1 were set to unknown\nReview for gene: ABL1 was set to GREEN\nAdded comment: PMID: 28288113: six affected individuals from 4 unrelated families who shared similar clinical features including dysmorphic facial features (6/6), congenital heart disease (CHD, 6/6), skeletal abnormalities (6/6), joint problems (5/6), failure to thrive (5/6), gastrointestinal problems (5/6), and male genital/sexual abnormalities (3/4). Missense variants with 3 families sharing the same variant (Tyr245Cys).\r\nAuthors also noted similar congenital malformations observed in fetuses exposed to the selective tyrosine kinase inhibitor imatinib, and patients with constitutional ABL1 variants \nSources: Literature",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:52:25.512428+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30071989, 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:41:09.629846+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25251786, 17148589; Phenotypes: Congenital Erythropoietic Porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:40:43.802675+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD2 as ready",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:40:43.790729+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Red List (Low Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:40:37.903501+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD2 was added\ngene: CHD2 was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920\nReview for gene: CHD2 was set to RED\nAdded comment: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. \nSources: Expert list",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:32:53.275861+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:30:54.487585+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9792863; Phenotypes: Porphyria cutanea tarda; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:27:38.455954+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16343966, 30724374, 31311713; Phenotypes: Porphyria, acute hepatic (MIM# 612740); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:19:40.610240+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8829650; Phenotypes: Congenital erythropoietic porphyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-06-25T10:07:14.822257+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: 235200; Phenotypes: Hemochromatosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T09:27:54.476920+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOM1 as Red List (low evidence)",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2020-06-25T09:27:54.467835+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myom1 has been classified as Red List (Low Evidence).",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:56:09.672197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GANAB as ready",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:56:09.659816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ganab has been classified as Green List (High Evidence).",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:56:00.827048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GANAB were changed from to Polycystic kidney disease 3, MIM# 600666",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:55:35.877830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GANAB were set to ",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:55:16.808831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GANAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:54:56.202127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259053; Phenotypes: Polycystic kidney disease 3, MIM# 600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:54:01.192021+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GANAB as ready",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:54:01.180114+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ganab has been classified as Green List (High Evidence).",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:53:58.008289+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GANAB were changed from to Polycystic kidney disease 3, MIM# 600666",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:53:26.489434+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GANAB were set to ",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:52:55.181271+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GANAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:52:19.395958+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259053; Phenotypes: Polycystic kidney disease 3, MIM# 600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:44:31.073370+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:44:31.063598+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:44:09.440427+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:43:07.194151+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:42:45.253537+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:42:11.747829+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:29:22.928908+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:29:22.917152+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Red List (Low Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-06-25T07:28:57.568831+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Renal Macrocystic Disease. Sources: Expert list\nMode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRP5 were set to 25920554; 24706814\nPhenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts, MIM#\t617875\nReview for gene: LRP5 was set to RED\nAdded comment: 5 families reported. However, some non-penetrance reported in family members in original family. In two of the families reported subsequently, PKD1 LP variants were found and LRP5 variant was postulated to be a modifier. Note that one of the variants p.Arg1036Gln is present in 692 individuals in gnomad, p.Trp560Cys is present in 9, and p.Arg1135Cys is present in 70. Overall limited evidence for association with cystic renal phenotype. Note the gene has a well-established association with eye/bone phenotypes. \nSources: Expert list",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:35:01.154045+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMD as ready",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:35:01.140883+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmd has been classified as Green List (High Evidence).",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:34:55.438583+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DMD.",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:32:30.796580+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy (MIM#310200); Becker muscular dystrophy (MIM#300376)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:32:05.500620+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:31:08.592416+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SGCG from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-24T23:30:21.737692+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCG as ready",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:30:21.728055+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgcg has been classified as Green List (High Evidence).",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:30:17.866084+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCG were set to ",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:30:05.938191+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30838351, 25802879; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5, MIM# 253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:27:58.404478+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPN3 as ready",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:27:58.391273+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Red List (Low Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:27:51.262603+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPN3 as Red List (low evidence)",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:27:51.250677+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Red List (Low Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:27:20.412679+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:26:52.614135+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPN3 as ready",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:26:52.601066+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: capn3 has been classified as Green List (High Evidence).",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-06-24T23:26:48.452347+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A, 253600 to Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129; Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600",
"entity_name": "CAPN3",
"entity_type": "gene"
}
]
}