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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=836",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=834",
"results": [
{
"created": "2022-05-18T15:17:21.883218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14451",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arv1 has been classified as Green List (High Evidence).",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-05-18T15:09:23.945239+10:00",
"panel_name": "Cardiomyopathy_Adult_SuperPanel",
"panel_id": 253,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-05-18T14:54:41.842270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14451",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ASPN",
"entity_type": "gene"
},
{
"created": "2022-05-18T14:20:39.671317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14450",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARV1 were changed from to DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 MIM#61720; Dilated cardiomyopathy",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-05-18T14:13:08.609649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14449",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARV1 were set to ",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-05-18T14:13:05.736810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14449",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:16:23.867929+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM8 were set to 32652893",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:16:08.230898+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 25437880, 25873734; Phenotypes: Premature ovarian failure 10, MIM# 612885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:16:05.260200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:15:45.143007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM8 were set to ",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:15:26.070974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCM8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:15:01.014751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 25437880, 25873734; Phenotypes: Premature ovarian failure 10, MIM# 612885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:11:14.255722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM6 as ready",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:11:14.240534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm6 has been classified as Red List (Low Evidence).",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:11:01.685553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM6 were changed from to Lactase persistence/nonpersistence 223100",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:10:38.167559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:10:16.784892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM6 as Red List (low evidence)",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:10:16.772708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm6 has been classified as Red List (Low Evidence).",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T11:09:56.118910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase persistence/nonpersistence 223100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:48:49.085022+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:48:16.766295+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:48:04.756646+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAS1 were changed from infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:47:32.932538+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:47:19.140975+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:46:46.956828+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:46:26.829925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-18T06:46:02.481595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:58:33.026795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCEE as ready",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:58:33.010050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:58:21.147529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCEE were changed from to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:57:57.605401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCEE were set to ",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:57:35.846764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCEE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:56:50.700709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:56:50.690085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Green List (High Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:56:29.637346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:56:10.388644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCCC2 were set to ",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:54:17.631812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:53:55.963572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:52:25.164110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC1 as ready",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:52:25.153354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Green List (High Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:52:16.839332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:51:56.509563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCCC1 were set to ",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:50:49.515797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:50:22.960786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:46:50.451407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC3R as ready",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:46:50.441305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc3r has been classified as Red List (Low Evidence).",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:46:42.098684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MC3R were changed from to {Obesity, severe, susceptibility to, BMIQ9} 602025",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:46:20.171177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MC3R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:46:00.257626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MC3R as Red List (low evidence)",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:46:00.245806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc3r has been classified as Red List (Low Evidence).",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T19:45:40.074060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MC3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Obesity, severe, susceptibility to, BMIQ9} 602025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MC3R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:51:09.366871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC2R as ready",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:51:09.354233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc2r has been classified as Green List (High Evidence).",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:50:58.266007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MC2R were changed from to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:50:34.236870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MC2R were set to ",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:50:11.726406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MC2R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:49:33.541806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: 8094489, 8227361; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:47:17.025266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBL2 as ready",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:47:17.013323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbl2 has been classified as Red List (Low Evidence).",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:47:06.611266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:46:50.374254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:45:53.425979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBL2 were changed from to {Chronic infections, due to MBL deficiency} 614372",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:45:32.504320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBL2 as Red List (low evidence)",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:45:32.480101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbl2 has been classified as Red List (Low Evidence).",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:44:54.777242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Chronic infections, due to MBL deficiency} 614372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBL2",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:42:57.199031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MATR3 as ready",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:42:57.183416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: matr3 has been classified as Green List (High Evidence).",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:42:48.195976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MATR3 were changed from to Amyotrophic lateral sclerosis 21, MIM# 606070; Distal myopathy",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:42:27.698807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MATR3 were set to ",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:42:06.960281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:41:46.311579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344878, 24686783, 35205163, 34659085, 34173818, 26493020; Phenotypes: Amyotrophic lateral sclerosis 21, MIM# 606070, Distal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:37:11.530938+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K1 as ready",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:37:11.519363+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:37:08.416468+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K1 were changed from to 46XY sex reversal 6 (MIM#613762)",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:31:58.799084+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP3K1 were set to ",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:31:29.892259+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP3K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:30:58.729152+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:30:07.421447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP3K1 as ready",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:30:07.401593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map3k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:28:45.854598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K1 were changed from to 46XY sex reversal 6 (MIM#613762)",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:28:24.580078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP3K1 were set to ",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:28:03.870808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP3K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:27:44.490752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:26:14.023221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAK as ready",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:26:14.010648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mak has been classified as Green List (High Evidence).",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:26:05.849372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAK were changed from to Retinitis pigmentosa 62, MIM# 614181",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:25:45.246891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAK were set to ",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:25:25.184726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:23:55.841307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21825139, 21835304; Phenotypes: Retinitis pigmentosa 62, MIM# 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:21:20.886702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGT1 as ready",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:21:20.874653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:21:12.599482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:20:45.404778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGT1 were set to ",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:20:24.846135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:20:02.946750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 31036665;\r\n- 3 affecteds (males; 2x CDG and 1x XMEN)\r\n- All 3 patients have an N-glycosylation defect\r\n\r\nPMID: 31714901;\r\n- 23 XMEN patients from 17 families\r\n- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; to: PMID: 31036665;\r\n- 3 affecteds (males; 2x CDG and 1x XMEN)\r\n- All 3 patients have an N-glycosylation defect\r\n\r\nPMID: 31714901;\r\n- 23 XMEN patients from 17 families\r\n- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation\r\n\r\nThese likely represent a single disorder.",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T18:19:45.661308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31036665, 31714901; Phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2022-05-17T17:25:49.603300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: GREM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22561515, 26493165, 21128281, 29804199; Phenotypes: hereditary mixed polyposis syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GREM1",
"entity_type": "gene"
},
{
"created": "2022-05-17T10:17:35.650024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571425, 33836786 , 11528505; Phenotypes: Currarino syndrome, MIM# 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-05-17T10:08:31.929504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14410",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33419968, 33708320, 32192766; Phenotypes: Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-17T08:30:40.297779+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGI2 were set to 27932480; 25271328; 25108225",
"entity_name": "MAGI2",
"entity_type": "gene"
}
]
}