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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=591",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=589",
"results": [
{
"created": "2023-06-05T14:13:11.587623+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:12:43.022663+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYMK as Green List (high evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:12:43.014919+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:12:39.947593+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYMK as ready",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:12:39.936026+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymk has been classified as Red List (Low Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:09:01.801168+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYMK was added\ngene: MYMK was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMK were set to 32333597; 30065953\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome MONDO:0009700\nReview for gene: MYMK was set to GREEN\ngene: MYMK was marked as current diagnostic\nAdded comment: Carey-Fineman-Ziter syndrome is considered a congenital myopathy \nSources: Other",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2023-06-05T13:49:24.096590+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYH2 as ready",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2023-06-05T13:49:24.078089+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh2 has been classified as Green List (High Evidence).",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2023-06-05T13:49:14.557352+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYH2 as Green List (high evidence)",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2023-06-05T13:49:14.554076+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Definitive gene-disease validity by the ClinGen Congenital Myopathy VCEP - reviewed 09/03/2020",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2023-06-05T13:49:14.527310+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myh2 has been classified as Green List (High Evidence).",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2023-06-05T13:47:27.831458+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH2 was added\ngene: MYH2 was added to Muscular dystrophy_Paediatric. Sources: Expert list\nMode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MYH2 were set to 20418530; 15548556; 24193343; 11114175; 23489661; 32578970; 29934118; 28729039; 27490141; 27177998\nPhenotypes for gene: MYH2 were set to Myopathy, proximal, and ophthalmoplegia MONDO:0011577\ngene: MYH2 was marked as current diagnostic",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2023-06-05T12:49:16.625084+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: GRIN1 was added\ngene: GRIN1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRIN1 were set to 33528536; 34788679\nPhenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant\tMIM#614254\tAD\nReview for gene: GRIN1 was set to GREEN\nAdded comment: 3 individuals in a large CP cohort study with heterozygous mutations in GRIN1, two of which reported to be de novo. Another single patient in a large cohort study with heterozygous de novo mutation. All of these mutations are missense mutations. Note that there are other disorders associated with this gene that are due to biallelic mutations in GRIN1, however, for CP only heterozygous mutations are described so far. \nSources: Literature",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2023-06-05T11:43:29.373883+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-06-05T11:43:08.679220+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "edited their review of gene: GCDH: Added comment: One larger cohort study on 34 patients with Glutaric Aciduria Type 1 (GA1) that showed that patient diagnosed clinically will develop a CP at school age in 64% (7 out of 11 cases).\r\nIn addition, there are several case reports of patients with dystonic, dyskinetic or spastic CP that were diagnosed with biallelic mutations in GCDH and biochemically corresponding features. Also, one case in a larger cohort study of patients with atypical CP (no mutation information given for this patient).; Changed rating: GREEN; Changed publications: 30542205, 26593172, 25280894, 30271473, 35822093",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:44:43.111228+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Australian Genomics; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-05T09:43:55.791619+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WT1 as ready",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:43:55.781276+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Green List (High Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:43:53.625479+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WT1 as Green List (high evidence)",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:43:53.611721+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Green List (High Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:43:46.378738+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WT1 were set to 35802134\nPhenotypes for gene: WT1 were set to Wilms' tumor MIM#194070\ngene: WT1 was marked as current diagnostic",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:42:07.022640+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:42:07.014276+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:42:04.762108+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTR as Green List (high evidence)",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:42:04.754279+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:41:54.483786+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTR were set to 35802134\nPhenotypes for gene: TTR were set to Hereditary transthyretin-related amyloidosis MIM#105210\ngene: TTR was marked as current diagnostic",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:40:31.937193+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNNC1 as ready",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:40:31.928898+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Green List (High Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:40:28.529820+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNNC1 as Green List (high evidence)",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:40:28.515542+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Green List (High Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:40:22.442697+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNC1 was added\ngene: TNNC1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNC1 were set to 35802134\nPhenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated, 1Z, MIM# 611879\ngene: TNNC1 was marked as current diagnostic",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:38:45.619047+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RBM20 as ready",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:38:45.611506+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbm20 has been classified as Green List (High Evidence).",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:38:42.003335+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBM20 as Green List (high evidence)",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:38:41.990604+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbm20 has been classified as Green List (High Evidence).",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:38:35.991789+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBM20 was added\ngene: RBM20 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBM20 were set to 35802134\nPhenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD\ngene: RBM20 was marked as current diagnostic",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:37:23.150002+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RB1 as ready",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:37:23.137887+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rb1 has been classified as Green List (High Evidence).",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:37:18.002460+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RB1 as Green List (high evidence)",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:37:17.992391+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rb1 has been classified as Green List (High Evidence).",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:37:11.632815+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RB1 was added\ngene: RB1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380\ngene: RB1 was marked as current diagnostic",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:34:34.481853+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:34:34.469704+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:34:30.617908+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DES as Green List (high evidence)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:34:30.607334+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:34:23.323276+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DES were set to 35802134\nPhenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419\ngene: DES was marked as current diagnostic",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:32:29.315592+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BAG3 as ready",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:32:29.305403+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Green List (High Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:32:23.496250+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BAG3 as Green List (high evidence)",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:32:23.483751+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Green List (High Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-06-05T09:32:12.324411+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BAG3 was added\ngene: BAG3 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAG3 were set to 35802134\nPhenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-06-05T08:39:32.483101+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "changed review comment from: More than 8 individuals reported with heterozygous mutations in COL4A2 and CP in large cohort studies. Note that some of these mutations have been inherited from one parent so incomplete penetrance is likely. In one study, it is hypothesized that COL4A2 mutations can cause vascular instability and might thus pose a risk for perinatal intracranial hemorrhage resulting in CP.; to: More than 8 individuals reported with heterozygous mutations in COL4A1 and CP in large cohort studies. Note that some of these mutations have been inherited from one parent so incomplete penetrance is likely. In one study, it is hypothesized that COL4A1 mutations can cause vascular instability and might thus pose a risk for perinatal intracranial hemorrhage resulting in CP.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:24:20.660180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Telomere syndrome MONDO:0100137 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:23:55.891925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOP10 were set to 17507419; 32554502",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:23:28.802195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:23:06.038526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOP10: Added comment: PMID 32139460: large multiplex family with 4 affected individuals segregating a heterozygous variant.; Changed rating: AMBER; Changed publications: 17507419, 32139460; Changed phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:21:46.092626+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:21:19.964726+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOP10 were set to 17507419",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:20:45.721958+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:20:11.119653+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOP10: Added comment: PMID 32139460: multiplex family with 4 affected individuals and heterozygous variant in NOP10.; Changed rating: AMBER; Changed publications: 17507419, 32139460; Changed phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:18:05.919232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152 to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152; Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-06-04T14:17:35.753034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MFN2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Hereditary motor and sensory neuropathy VIA, MIM# 601152, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:51:59.413448+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20506600, 19592391, 33574740; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:42:59.326804+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MEGF10 as ready",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:42:59.319113+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: megf10 has been classified as Green List (High Evidence).",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:42:51.727080+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MEGF10 as Green List (high evidence)",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:42:51.719238+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: megf10 has been classified as Green List (High Evidence).",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:42:13.278008+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MEGF10 was added\ngene: MEGF10 was added to Muscular dystrophy_Paediatric. Sources: Expert list\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEGF10 were set to 22101682; 22371254; 23453856; 27460346\nPhenotypes for gene: MEGF10 were set to MEGF10-Related Myopathy MONDO:0013731\ngene: MEGF10 was marked as current diagnostic\nAdded comment: Assigned a definitive gene-disease validity classification by the ClinGen congenital myopathy GCEP - 27/1/2020 \nSources: Expert list",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:37:24.843922+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:37:24.835525+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:37:20.766983+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAN2B1 as Green List (high evidence)",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:37:20.756428+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:36:36.306122+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B1 were set to 20301570\nPhenotypes for gene: MAN2B1 were set to Alpha-mannosidosis MONDO:0009561\nReview for gene: MAN2B1 was set to GREEN\ngene: MAN2B1 was marked as current diagnostic\nAdded comment: Metabolic myopathy is a well-established feature of the condition. \nSources: Expert list",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:31:56.439444+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:31:56.424177+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fktn has been classified as Green List (High Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:31:48.042563+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:31:04.307017+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FKTN were set to ",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:30:12.417657+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:28:52.855856+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKBP14 as ready",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:28:52.842868+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:28:45.951418+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKBP14 as Green List (high evidence)",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:28:45.943911+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:28:14.503440+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FKBP14 was added\ngene: FKBP14 was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKBP14 were set to 31132235\nPhenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800\nReview for gene: FKBP14 was set to GREEN\ngene: FKBP14 was marked as current diagnostic\nAdded comment: Affected individuals typically present at birth with congenital hypotonia and weakness. \nSources: Literature",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:18:52.958930+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM111B as ready",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:18:52.947666+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:16:33.492665+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM111B as Green List (high evidence)",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:16:33.484414+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam111b has been classified as Green List (High Evidence).",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:15:23.145562+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM111B was added\ngene: FAM111B was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111B were set to 27748098\nPhenotypes for gene: FAM111B were set to Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310\nMode of pathogenicity for gene: FAM111B was set to Other\nReview for gene: FAM111B was set to GREEN\nAdded comment: Muscle contractures are usually seen in childhood. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs, beginning with the proximal muscles. Serum creatine kinase is either normal or slightly increased and electromyography may show a normal or myopathic pattern. The mechanism of disease is unknown, but based on the spectrum of pathogenic variants it is expected to be dominant-negative. \nSources: Other",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:07:33.174914+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHOBTB2 were set to 29768694; 29276004",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:06:57.401100+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:06:23.836698+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RHOBTB2: Added comment: PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences.\r\nIn addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.; Changed publications: 29768694, 29276004, 37165955; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:05:26.852889+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHOBTB2 were set to 29768694; 29276004",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:04:43.159255+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:04:05.197343+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RHOBTB2: Added comment: PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences.\r\nIn addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.; Changed publications: 29768694, 29276004, 37165955; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:02:31.323990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHOBTB2 were set to 29276004; 29768694",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:02:08.246555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RHOBTB2 was changed from Other to None",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:01:38.674246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T11:01:20.004603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37165955; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM#618004; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2023-06-02T10:46:57.136765+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DM1 as ready",
"entity_name": "DM1",
"entity_type": "str"
},
{
"created": "2023-06-02T10:46:57.128143+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dm1 has been classified as Green List (High Evidence).",
"entity_name": "DM1",
"entity_type": "str"
}
]
}