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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=890",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=888",
"results": [
{
"created": "2022-04-07T13:18:35.921000+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:17:33.926022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Neurological disorder to Neurological disorder; Deafness, autosomal dominant 84 MIM#619810",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:16:34.016810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP11A were set to PMID: 34403372",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:16:08.517367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:08:15.136736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNC1 as ready",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:08:15.123859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Green List (High Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:31:39.418594+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4661",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CACNA2D1 as ready",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:31:39.398288+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4661",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:30:30.150906+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4661",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D1 were changed from developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:28:36.851833+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4660",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CACNA2D1 as Green List (high evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:28:36.841951+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4660",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:27:50.273972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12733",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CACNA2D1 as ready",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:27:50.263809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12733",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:27:44.256394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12733",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D1 were changed from developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:27:25.511758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12732",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CACNA2D1 as Green List (high evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:27:25.495475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12732",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:13:12.588835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "edited their review of gene: TTC21B: Added comment: Correcting typographical error; Changed phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:09:19.080099+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.181",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:05:14.243727+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1542",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: TRAPPC10 was added\ngene: TRAPPC10 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC10 were set to PMID: 35298461; 30167849\nPhenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related\nReview for gene: TRAPPC10 was set to GREEN\nAdded comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.\r\n\r\nPMID: 30167849 – initial report of family 2 above. \nSources: Literature",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:03:50.594214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CACNA2D1 was added\ngene: CACNA2D1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D1 were set to 35293990\nPhenotypes for gene: CACNA2D1 were set to developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related\nReview for gene: CACNA2D1 was set to GREEN\nAdded comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.\r\n\r\nPatient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts\r\n\r\nPatient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed impaired localization and mutagenesis showed complete loss of channel function. \nSources: Literature",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:02:34.104870+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC10 as ready",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:02:34.091008+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:02:23.757614+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC10 as Green List (high evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:02:23.742056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:02:04.256256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "edited their review of gene: TTC21B: Added comment: Updated to include additional publications linking glomerular disorder.; Changed rating: GREEN; Changed publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Changed phenotypes: Glomerular disorder (MONOD:0019722), TTC21B-related",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:02:02.126287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4658",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CACNA2D1 was added\ngene: CACNA2D1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D1 were set to 35293990\nPhenotypes for gene: CACNA2D1 were set to developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related\nReview for gene: CACNA2D1 was set to GREEN\nAdded comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.\r\n\r\nPatient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts\r\n\r\nPatient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed impaired localization and mutagenesis showed complete loss of channel function. \nSources: Literature",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:01:19.148869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC10 as ready",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:01:19.137277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:01:03.809195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC10 as Green List (high evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:01:03.785045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:00:51.814794+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CACNA2D1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-04-07T12:00:25.406701+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC10 as ready",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T12:00:25.365999+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:59:35.887191+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC10 as Green List (high evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:59:35.875017+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:59:04.306215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; Cardiomyopathy, hypertrophic, 13 (MIM# 613243)",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:57:17.672574+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:57:06.483123+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDFIC as ready",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:57:06.470899+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdfic has been classified as Green List (High Evidence).",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:57:01.774410+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDFIC as Green List (high evidence)",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:57:01.761700+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdfic has been classified as Green List (High Evidence).",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:56:27.354141+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDFIC as ready",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:56:27.342358+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdfic has been classified as Green List (High Evidence).",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:56:20.804864+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDFIC as Green List (high evidence)",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:56:20.792774+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdfic has been classified as Green List (High Evidence).",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:56:08.516481+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1542",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:55:40.486244+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1542",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D1 were changed from Developmental and pileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:55:01.526787+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D1 were changed from to Developmental and pileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:54:04.316123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome; Glomerular disorder MONDO:0019722, TTC21B-related",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:53:59.575119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4658",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "changed review comment from: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense. Supporting functional analysis for missense. \nSources: Expert list; to: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense. Supporting functional analysis for missense. \r\nSources: Expert list",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:53:54.281610+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1540",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CACNA2D1 as Green List (high evidence)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:53:54.276459+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1540",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two affected individuals with very similar and specific phenotypes. Functional studies in patient cells showed reduced protein expression. Two variants are frameshift, one missense variant shown to affect channel function.",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:53:54.237145+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1540",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:52:43.094286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12728",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:52:09.012070+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1539",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ATP2B1 was added\ngene: ATP2B1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B1 were set to PMID: 35358416\nPhenotypes for gene: ATP2B1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related\nReview for gene: ATP2B1 was set to GREEN\nAdded comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense. \nSources: Expert list",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:50:31.545446+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4658",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: TRAPPC10 was added\ngene: TRAPPC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC10 were set to PMID: 35298461; 30167849\nPhenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related\nReview for gene: TRAPPC10 was set to GREEN\nAdded comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.\r\n\r\nPMID: 30167849 – initial report of family 2 above. \nSources: Literature",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:48:37.126213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12728",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: TRAPPC10 was added\ngene: TRAPPC10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC10 were set to PMID: 35298461; 30167849\nPhenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related\nReview for gene: TRAPPC10 was set to GREEN\nAdded comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.\r\n\r\nPMID: 30167849 – initial report of family 2 above. \nSources: Literature",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:48:26.982671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from {Neural tube defects, susceptibility to}\tMIM#182940 to {Neural tube defects, susceptibility to}\tMIM#182940; craniosynostosis, FUZ-related MONDO#0015469",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:48:05.366280+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.47",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ADAM22 as ready",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:48:05.348101+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.47",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Green List (High Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:48:03.196895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:47:55.707779+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.47",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ADAM22 as Green List (high evidence)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:47:55.698476+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.47",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Green List (High Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:47:50.711216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84 MIM#619810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:47:11.678477+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1539",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.\r\n\r\nPatient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts.\r\n\r\nPatient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed it affects channel function due to impaired localisation. \nSources: Literature; to: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.\r\n\r\nPatient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts.\r\n\r\nPatient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Mutagenesis of the p.(Gly209Asp) showed it affects channel function due to impaired localisation. \r\nSources: Literature",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:47:10.756489+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4658",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ATP2B1 was added\ngene: ATP2B1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B1 were set to PMID: 35358416\nPhenotypes for gene: ATP2B1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related\nReview for gene: ATP2B1 was set to GREEN\nAdded comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense. Supporting functional analysis for missense. \nSources: Expert list",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:47:05.084875+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4658",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM#\t617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:46:38.181612+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.117",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: TRAPPC10 was added\ngene: TRAPPC10 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC10 were set to PMID: 35298461; 30167849\nPhenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related\nReview for gene: TRAPPC10 was set to GREEN\nAdded comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.\r\nPMID: 30167849 – initial report of family 2 above. \nSources: Literature",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:46:23.383200+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4657",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ADAM22 as Green List (high evidence)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:46:23.371709+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4657",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Green List (High Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:45:40.377369+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1539",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM22 were changed from Developmental and epileptic encephalopathy 61 (MIM#617933) to Developmental and epileptic encephalopathy 61 (MIM#617933)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:45:13.920901+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.15",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: MDFIC was added\ngene: MDFIC was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDFIC were set to 35235341\nPhenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193\nReview for gene: MDFIC was set to GREEN\nAdded comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. \r\n\r\nSeven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax. \nSources: Literature",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:45:04.605859+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1538",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM#\t617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:45:02.264040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: craniosynostosis, FUZ-related MONDO#0015469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:44:35.369754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: MDFIC: Changed phenotypes: Hydrops fetalis MONDO:0015193",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:44:16.705001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI1 as ready",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:44:16.695860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:44:15.685190+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1537",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: ADAM22 were set to 27066583; 30237576",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:44:03.404986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNI1 as Amber List (moderate evidence)",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:44:03.396054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:43:39.130595+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.244",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: MDFIC was added\ngene: MDFIC was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDFIC were set to 35235341\nPhenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193\nAdded comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. \r\n\r\nSeven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax. \nSources: Literature",
"entity_name": "MDFIC",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:43:37.976438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:43:33.439561+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1536",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ADAM22 as Green List (high evidence)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:43:33.430550+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1536",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Green List (High Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:50.105127+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI1 as ready",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:50.094468+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:45.549541+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNI1 as Amber List (moderate evidence)",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:45.535270+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:13.061632+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:11.865067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12724",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SLC35B2 as ready",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:42:11.850830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12724",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc35b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:41:07.363566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12724",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SLC35B2 as Amber List (moderate evidence)",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:41:07.346162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12724",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: slc35b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:40:01.693624+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI1 as ready",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:40:01.662018+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:39:55.468246+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNI1 as Amber List (moderate evidence)",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:39:55.459671+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:39:53.196716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12723",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:39:42.768304+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related",
"entity_name": "TNNI1",
"entity_type": "gene"
},
{
"created": "2022-04-07T11:37:53.926770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12723",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "commented on gene: FUZ",
"entity_name": "FUZ",
"entity_type": "gene"
}
]
}