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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1399",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1397",
"results": [
{
"created": "2021-03-01T16:14:14.311122+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: PAX4 were set to ",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:14:02.215033+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.7",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PAX4 as Green List (high evidence)",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:14:02.202264+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.7",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pax4 has been classified as Green List (High Evidence).",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:13:49.252895+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:12:54.815232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6501",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SPEN as Green List (high evidence)",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:12:54.806979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6501",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: spen has been classified as Green List (High Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:12:14.914861+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.6",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24848070, 24204001; Phenotypes: MODY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:08:55.312133+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PSAP as ready",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:08:55.304127+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: psap has been classified as Green List (High Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:08:51.320876+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from parkinson's disease to Parkinson Disease, AD",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:07:40.593745+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.100",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PSAP as Green List (high evidence)",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:07:40.586093+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.100",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Described onset between 33 and 60yrs",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:07:40.535139+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.100",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: psap has been classified as Green List (High Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:06:51.897703+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.99",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PSAP as Green List (high evidence)",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:06:51.885524+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.99",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: psap has been classified as Green List (High Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:06:16.834719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6500",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: phenotype expansion",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:06:16.810482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6500",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:06:02.956527+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.211",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MAST2 as ready",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:06:02.946216+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.211",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mast2 has been classified as Red List (Low Evidence).",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:05:56.527723+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.211",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MAST2 as Red List (low evidence)",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:05:56.520037+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.211",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mast2 has been classified as Red List (Low Evidence).",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:04:35.458618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6499",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PSAP as ready",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:04:35.447775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6499",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: psap has been classified as Green List (High Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:04:28.614899+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.98",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 6 affecteds from 3 families. Age of onset ranges from 33-60.\r\nFunctional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration \nSources: Literature; to: - 6 affecteds from 3 families. Age of onset ranges from 33-60.\r\n- 2x missense and 1 inframe del\r\n- Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration \r\nSources: Literature",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:04:25.448029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6499",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from to Parkinson disease, AD",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:03:10.742172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6498",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:02:49.127842+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.98",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PSAP were set to 32201884\nPhenotypes for gene: PSAP were set to parkinson's disease\nPenetrance for gene: PSAP were set to unknown\nReview for gene: PSAP was set to GREEN\nAdded comment: 6 affecteds from 3 families. Age of onset ranges from 33-60.\r\nFunctional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration \nSources: Literature",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:59:48.259709+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6497",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ACTL9 as Green List (high evidence)",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:59:48.244236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6497",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: actl9 has been classified as Green List (High Evidence).",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:57:51.853716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3469",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SPEN as Green List (high evidence)",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:57:51.842812+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3469",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: spen has been classified as Green List (High Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:57:32.291271+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3469",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SPEN as Green List (high evidence)",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:57:32.280552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3469",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: spen has been classified as Green List (High Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:56:59.532196+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.210",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MAST2 was added\ngene: MAST2 was added to Bleeding and Platelet Disorders. Sources: Literature\nMode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAST2 were set to PMID: 33465109\nPhenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis\nReview for gene: MAST2 was set to RED\nAdded comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.\r\n\r\nRNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets \nSources: Literature",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:56:05.101480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6496",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MAST2 as ready",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:56:05.087655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6496",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mast2 has been classified as Red List (Low Evidence).",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:55:40.290810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6496",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MAST2 as Red List (low evidence)",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:55:40.283160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6496",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mast2 has been classified as Red List (Low Evidence).",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:55:14.290644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6495",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:54:20.330508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6495",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ANGPTL6 as Green List (high evidence)",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:54:20.318892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6495",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: angptl6 has been classified as Green List (High Evidence).",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:54:08.787220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6494",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients; to: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:53:33.161922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6494",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.\r\n\r\nPMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; to: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.\r\n\r\nPMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:52:53.415893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6494",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EPAS1 as ready",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:52:53.404452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6494",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: epas1 has been classified as Green List (High Evidence).",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:52:40.205801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6494",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EPAS1 were changed from to Familial erythrocytosis (MIM#4611783), AD",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:52:23.921290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6493",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: EPAS1 were set to ",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:52:07.885727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6492",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NLRP3 as Green List (high evidence)",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:52:07.876204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6492",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nlrp3 has been classified as Green List (High Evidence).",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:51:48.760800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6491",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: NLRP3 were set to ",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:51:39.144390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6490",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes.\r\n\r\nPMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; to: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.\r\n\r\nPMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:51:39.047623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Gain-of-function",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:51:39.011136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EPAS1 was changed from to Other",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:51:14.642635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6489",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:50:41.827520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:49:58.865155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NLRP3 as ready",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:49:58.853273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nlrp3 has been classified as Green List (High Evidence).",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:49:41.656681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24848070, 24204001; Phenotypes: MODY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:48:25.229245+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3468",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:48:25.221635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3468",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:45:14.723331+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3468",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:45:14.713061+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3468",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:44:29.794117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33578420, 31332438; Phenotypes: hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:44:02.282663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3467",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia\nReview for gene: MED27 was set to GREEN\ngene: MED27 was marked as current diagnostic\nAdded comment: 16 patients from 11 families reported \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:41:11.874504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:41:11.866888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:40:56.193257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:40:56.182692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6487",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:40:44.674722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6486",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32201884; Phenotypes: parkinson's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:40:16.209057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6486",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:39:51.327480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6486",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia\nReview for gene: MED27 was set to GREEN\ngene: MED27 was marked as current diagnostic\nAdded comment: 16 patients from 11 families with balletic variants \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:39:08.679253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ACTL9 was added\ngene: ACTL9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACTL9 were set to PMID: 33626338\nPhenotypes for gene: ACTL9 were set to Fertilization failure; male infertility\nReview for gene: ACTL9 was set to GREEN\nAdded comment: Three families with homozygous pathogenic variants (two missense, one PTC). Single affected in each family. Functional analysis from patients shows all sperm had morphological defects, protein had reduced binding to ACTL7A\r\nAll variants very rare in gnomAD. \nSources: Literature",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:31:37.463487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3466",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:27:48.211196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MAST2 was added\ngene: MAST2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAST2 were set to PMID: 33465109\nPhenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis\nReview for gene: MAST2 was set to RED\nAdded comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.\r\n\r\nRNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets \nSources: Literature",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-01T15:26:04.136126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: ANGPTL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33106390; Phenotypes: Cerebral aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T12:47:12.035969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: EPAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27292716, 19208626; Phenotypes: Familial erythrocytosis (MIM#4611783), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-03-01T12:21:17.295892+11:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-01T11:33:22.736611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25038238; Phenotypes: Familial cold inflammatory syndrome 1, MIM#120100, Muckle-Wells syndrome, MIM#191900, CINCA syndrome, MIM#607115, Deafness, autosomal dominant 34, with or without inflammation, MIM#617772, Keratoendothelitis fugax hereditaria, MIM#148200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:26:35.246560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPS as ready",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:26:35.234493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agps has been classified as Green List (High Evidence).",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:26:27.438875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:26:07.722873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPS were set to ",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:25:47.825539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:25:27.878959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:20:01.973303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BANF1 as ready",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:20:01.964931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:19:51.940731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:19:13.845220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BANF1 were set to ",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:18:35.430532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:18:08.872950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BANF1 as Amber List (moderate evidence)",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:18:08.864557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:17:50.070678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:16:56.978409+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BANF1 as ready",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:16:56.966557+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:16:53.607654+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:16:22.064536+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BANF1 were set to ",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:15:52.415073+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:15:25.856549+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BANF1 as Amber List (moderate evidence)",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:15:25.849004+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:14:56.903330+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
}
]
}