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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=590",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=588",
"results": [
{
"created": "2023-06-07T14:40:58.834026+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: mrupav has been classified as Green List (High Evidence).",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:40:41.929344+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: MRUPAV as Green List (high evidence)",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:40:41.921858+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: mrupav has been classified as Green List (High Evidence).",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:40:26.547288+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: MRUPAV was added\nSTR: MRUPAV was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for STR: MRUPAV was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: MRUPAV were set to 32451610; 37145156; 36151849; 35499779\nPhenotypes for STR: MRUPAV were set to myopathy, distal, with rimmed vacuoles MONDO:0014945\nReview for STR: MRUPAV was set to GREEN\nSTR: MRUPAV was marked as clinically relevant\nAdded comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation.\r\nSuggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV)\r\nAn additional 4 unrelated Chinese families/probands were reported.\r\nNormal PLIN4 alleles: 27-31 x 33-mer\r\nPathogenic: ≥39 x 33-mer \nSources: Literature",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:37:43.563299+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: MRUPAV as ready",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:37:43.552672+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: mrupav has been classified as Green List (High Evidence).",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:37:35.014150+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: MRUPAV as Green List (high evidence)",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:37:34.999784+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: mrupav has been classified as Green List (High Evidence).",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T14:37:19.778814+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: MRUPAV was added\nSTR: MRUPAV was added to Repeat Disorders. Sources: Literature\nadult-onset tags were added to STR: MRUPAV.\nMode of inheritance for STR: MRUPAV was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: MRUPAV were set to 32451610; 37145156; 36151849; 35499779\nPhenotypes for STR: MRUPAV were set to myopathy, distal, with rimmed vacuoles MONDO:0014945\nReview for STR: MRUPAV was set to GREEN\nSTR: MRUPAV was marked as clinically relevant\nAdded comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation. \r\nSuggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV)\r\nAn additional 4 unrelated Chinese families/probands were reported.\r\nNormal PLIN4 alleles: 27-31 x 33-mer\r\nPathogenic: ≥39 x 33-mer \nSources: Literature",
"entity_name": "MRUPAV",
"entity_type": "str"
},
{
"created": "2023-06-07T13:22:45.410842+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZMYND10 as ready",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:22:45.399736+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zmynd10 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:20:23.252826+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFIH1 were set to 34788679; 33177673; 33528536\nPhenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846; Immunodeficiency 95 MIM#619773; Singleton-Merten syndrome MIM#182250\nReview for gene: IFIH1 was set to GREEN\nAdded comment: Three large CP cohort publication with one patient each presenting with CP and harbouring a IFIH1 mutation (missense mutations). Note that the gene can have a very variable phenotype and incomplete penetrance has been reported for other diseases associated with mutatons in this gene. \nSources: Literature",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:14:25.179850+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZMYND10 as Green List (high evidence)",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:14:25.172509+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zmynd10 has been classified as Green List (High Evidence).",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:11:00.968459+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: HUWE1 was added\ngene: HUWE1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HUWE1 were set to 31700678\nPhenotypes for gene: HUWE1 were set to Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590\nReview for gene: HUWE1 was set to AMBER\nAdded comment: 1 large CP cohort study with three cases of HUWE1 mutation, two of which are VUS and one a likely benign variant. Note that one of the VUS is paternally inherited. No certain phenotypic overlap as HUWE1 mutations tend to cause ID, sometimes with muscular hypotonia. \nSources: Literature",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:08:12.105282+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZMYND10 was added\ngene: ZMYND10 was added to Congenital Heart Defect. Sources: Other\nMode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZMYND10 were set to 23891471; 23891469; 29402277\nPhenotypes for gene: ZMYND10 were set to Primary ciliary dyskinesia 22 MONDO:0014192\nReview for gene: ZMYND10 was set to GREEN\ngene: ZMYND10 was marked as current diagnostic\nAdded comment: CHD is a commonly reported feature of the condition. \nSources: Other",
"entity_name": "ZMYND10",
"entity_type": "gene"
},
{
"created": "2023-06-07T13:00:00.658565+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HPRT1 were set to 34788679, 30799092\nPhenotypes for gene: HPRT1 were set to Hyperuricemia, HRPT-related MIM#300323; Lesch-Nyhan syndrome MIM#300322\nReview for gene: HPRT1 was set to GREEN\nAdded comment: Several (>3) cases in large CP cohort studies present with different forms of CP. \nSources: Literature",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-06-07T12:55:56.740681+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-06T17:11:51.841552+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTC25 as ready",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-06-06T17:11:51.833329+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Green List (High Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-06-06T17:07:36.418966+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTC25 as Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-06-06T17:07:36.411024+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Green List (High Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-06-06T17:05:24.591689+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC25 was added\ngene: TTC25 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC25 were set to 34215651; 33746037; 27486780\nPhenotypes for gene: TTC25 were set to primary ciliary dyskinesia 35 MONDO:0014910\nReview for gene: TTC25 was set to GREEN\nAdded comment: At least 3 probands reported with congenital heart defects and a supporting mouse model. \nSources: Literature",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2023-06-05T17:36:15.859826+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MB as ready",
"entity_name": "MB",
"entity_type": "gene"
},
{
"created": "2023-06-05T17:36:15.849129+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mb has been classified as Green List (High Evidence).",
"entity_name": "MB",
"entity_type": "gene"
},
{
"created": "2023-06-05T17:36:11.563396+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MB as Green List (high evidence)",
"entity_name": "MB",
"entity_type": "gene"
},
{
"created": "2023-06-05T17:36:11.553372+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mb has been classified as Green List (High Evidence).",
"entity_name": "MB",
"entity_type": "gene"
},
{
"created": "2023-06-05T17:35:55.564666+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MB was added\ngene: MB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MB were set to 35527200; 30918256\nPhenotypes for gene: MB were set to Myopathy, sarcoplasmic body MIM#620286\nReview for gene: MB was set to GREEN\nAdded comment: Single recurrent variant (H98Y) was reported in multiple unrelated families. Only reported pathogenic variant to date. \nSources: Other",
"entity_name": "MB",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:30:31.189511+10:00",
"panel_name": "Myopathy Superpanel",
"panel_id": 3101,
"panel_version": "4.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Malignant Hyperthermia Susceptibility; Skeletal Muscle Channelopathies; Rhabdomyolysis and Metabolic Myopathy; Muscular dystrophy and myopathy_Paediatric; Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-05T16:28:15.014617+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"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": "2023-06-05T16:26:47.139475+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"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": "2023-06-05T16:25:36.642183+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Muscular dystrophy_Paediatric to Muscular dystrophy and myopathy_Paediatric\nHPO terms changed from Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236 to Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236; Myopathy, HP:0003198\nList of related panels changed from Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236 to Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236; Myopathy; HP:0003198",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-05T16:15:10.269741+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"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": "2023-06-05T16:14:27.999402+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VCP as Green List (high evidence)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:14:27.995239+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Definitive gene-disease validity - reviewed 23/12/2021",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:14:27.959599+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:02:51.758987+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRDN as ready",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:02:51.749426+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:01:41.468002+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRDN as Green List (high evidence)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:01:41.463122+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Congenital myopathy can be a feature of the condition",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-06-05T16:01:41.426958+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:59:08.199290+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRDN were set to 28202702; 30649896; 34415104\nPhenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:51:33.473798+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNNT3 as ready",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:51:33.459986+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnt3 has been classified as Green List (High Evidence).",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:51:28.452245+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNNT3 as Green List (high evidence)",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:51:28.435103+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnt3 has been classified as Green List (High Evidence).",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:50:59.906032+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNT3 was added\ngene: TNNT3 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNNT3 were set to 33977145; 29266598; 23775847\nPhenotypes for gene: TNNT3 were set to Nemaline myopathy MONDO:0018958\nReview for gene: TNNT3 was set to GREEN\nAdded comment: 2 unrelated families with nemaline myopathy and splice variants. Also, a supporting mouse model. \nSources: Other",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:31:52.335471+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNNT1 as ready",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:31:52.324673+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnt1 has been classified as Green List (High Evidence).",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:31:47.927088+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNNT1 as Green List (high evidence)",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:31:47.923911+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Biallelic Nemaline myopathy is classified as definitive by ClinGen Congenital Myopathies VCEP (reviewed 07/05/2020) with a LoF mechanism of disease, whereas monoallelic Nemaline myopathy is classified as limited (reviewed 22/06/2020) with an expected GoF mechanism of disease.",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:31:47.900399+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnt1 has been classified as Green List (High Evidence).",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:28:26.695414+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNT1 was added\ngene: TNNT1 was added to Muscular dystrophy_Paediatric. Sources: Other\nMode of inheritance for gene: TNNT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNNT1 were set to 10952871; 32994279; 32819427; 31970803; 31604653; 29931346; 29178646\nPhenotypes for gene: TNNT1 were set to Nemaline myopathy 5 MONDO:0011539; Nemaline myopathy MONDO:0018958",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:25:10.236422+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TAMM41 as ready",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:25:10.208663+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tamm41 has been classified as Green List (High Evidence).",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:23:43.439599+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAMM41 as Green List (high evidence)",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:23:43.428993+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tamm41 has been classified as Green List (High Evidence).",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:23:22.107118+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAMM41 was added\ngene: TAMM41 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAMM41 were set to 35321494; 29253589\nPhenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139",
"entity_name": "TAMM41",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:21:13.977483+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:21:13.965569+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:21:08.106575+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SUCLG1 as Green List (high evidence)",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:21:08.098599+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:20:40.772303+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCLG1 was added\ngene: SUCLG1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCLG1 were set to 30560055; 29217198\nPhenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9 MONDO:0009504",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:09:30.137173+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:09:30.128782+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:09:24.753202+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCO2 as Green List (high evidence)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:09:24.745266+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:08:50.041789+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCO2 were set to 23719228\nPhenotypes for gene: SCO2 were set to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451\ngene: SCO2 was marked as current diagnostic",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:01:11.180636+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RMND1 as Green List (high evidence)",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:01:11.173272+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rmnd1 has been classified as Green List (High Evidence).",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2023-06-05T15:00:53.499070+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RMND1 was added\ngene: RMND1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RMND1 were set to 23022099; 25604853; 27843092\nPhenotypes for gene: RMND1 were set to Combined oxidative phosphorylation defect type 11 MONDO:0013969",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:53:00.421416+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33634263, 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:52:33.449795+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TSFM as Green List (high evidence)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:52:33.439448+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Green List (High Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:52:18.706669+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:52:14.158349+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: TSFM",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:52:06.468612+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:48:41.869770+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PYROXD1 as ready",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:48:41.857491+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pyroxd1 has been classified as Green List (High Evidence).",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:47:35.511006+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PYROXD1 as Green List (high evidence)",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:47:35.506313+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Definitive gene-disease validity classification by ClinGen Congenital Myopathy VCEP - reviewed 05/11/2019",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:47:35.467943+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pyroxd1 has been classified as Green List (High Evidence).",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:45:36.851841+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PYROXD1 was added\ngene: PYROXD1 was added to Muscular dystrophy_Paediatric. Sources: Expert list\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYROXD1 were set to 30345904; 30515627; 27745833\nPhenotypes for gene: PYROXD1 were set to Myofibrillar myopathy 8 MONDO:0014993\ngene: PYROXD1 was marked as current diagnostic",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:44:14.623332+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYO18B as ready",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:44:14.609956+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myo18b has been classified as Green List (High Evidence).",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:26:12.692889+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYO18B as Green List (high evidence)",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:26:12.688730+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Moderate gene-disease validity classified by ClinGen Congenital Myopathy VCEP - reviewed 28/06/2021",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:26:12.636821+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myo18b has been classified as Green List (High Evidence).",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:24:57.327124+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYO18B was added\ngene: MYO18B was added to Muscular dystrophy_Paediatric. Sources: Expert list\nMode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346\nPhenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:21:40.024784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.937",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYMX as ready",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:21:40.000108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.937",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymx has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:20:52.429095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.937",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYMX as Amber List (moderate evidence)",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:20:52.418083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.937",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymx has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:20:35.468819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.936",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYMX was added\ngene: MYMX was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMX were set to 35642635\nPhenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700\nReview for gene: MYMX was set to AMBER\nAdded comment: Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype. \nSources: Literature",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:19:23.162785+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYMX as ready",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:19:23.154984+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymx has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:18:52.268683+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYMX as Amber List (moderate evidence)",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:18:52.255991+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mymx has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:18:02.443441+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYMX was added\ngene: MYMX was added to Muscular dystrophy_Paediatric. Sources: Literature\nMode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMX were set to 35642635\nPhenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700\nReview for gene: MYMX was set to AMBER\nAdded comment: Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype. \nSources: Literature",
"entity_name": "MYMX",
"entity_type": "gene"
},
{
"created": "2023-06-05T14:13:11.594794+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYMK as Green List (high evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
}
]
}