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[
{
"created": "2023-05-16T15:30:32.847745Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "4.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SLC5A7 were set to 27569547; 23141292; 26786006",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2023-05-16T14:23:32.678225Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "4.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to 16917026; 17452375; 22661499; 18626973",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2023-03-28T13:14:43.598222Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL13A1: Rating: ; Mode of pathogenicity: None; Publications: 31449669; Phenotypes: ; Mode of inheritance: None",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2023-03-28T13:13:28.789223Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL13A1.",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:52:10.181942Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "4.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:51:14.285217Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "4.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-01T16:35:18.377450Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.5",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: SYT2.",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:33:53.623184Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.5",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: SYT2",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:31:22.470635Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.4",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Mode of inheritance for gene SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2022-12-14T11:26:21.382746Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: At least 5 individuals from 2 unrelated families reported (PMID: 33215087; 34164833) specifically with a myasthenic syndrome in association with different homozygous LoF variants in this gene (c.127delC, p.Pro43fs and c.63dupC, p.Arg22Glnfs*88, respectively). Electromyography in patients revealed decremental responses on repetitive nerve stimulation. Muscle biopsy from one proband showed the protein encoded by TOR1AIP1 was absent in myonuclei. \r\nKnockout mice exhibited fatigable muscle weakness and also decrement on repetitive nerve stimulation. Neuromuscular junctions were enlarged and fragmented, and the number of subsynaptic nuclei was significantly increased signifying impaired synaptic transmission.; to: At least 5 individuals from 2 unrelated families reported (PMID: 33215087; 34164833) specifically with a myasthenic syndrome in association with different homozygous LoF variants in this gene (c.127delC, p.Pro43fs and c.63dupC, p.Arg22Glnfs*88, respectively). Electromyography in patients revealed decremental responses on repetitive nerve stimulation. Muscle biopsy from one proband showed the protein encoded by TOR1AIP1 was absent in myonuclei. Both variants were shown to truncate the muscle isoform (termed LAP1B) while the LAP1C isoform remained intact.\r\nKnockout mice exhibited fatigable muscle weakness and also decrement on repetitive nerve stimulation. Neuromuscular junctions were enlarged and fragmented, and the number of subsynaptic nuclei was significantly increased signifying impaired synaptic transmission.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-09T14:55:54.919027Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Associated with relevant phenotype in OMIM, but currently not in Gene2Phenotype.\r\n\r\nAt least 5 individuals from 2 unrelated families reported (PMID: 33215087; 34164833) specifically with a myasthenic syndrome in association with different homozygous LoF variants in this gene (c.127delC, p.Pro43fs and c.63dupC, p.Arg22Glnfs*88, respectively). Electromyography in patients revealed decremental responses on repetitive nerve stimulation. Muscle biopsy from one proband showed the protein encoded by TOR1AIP1 was absent in myonuclei. \r\nKnockout mice exhibited fatigable muscle weakness and also decrement on repetitive nerve stimulation. Neuromuscular junctions were enlarged and fragmented, and the number of subsynaptic nuclei was significantly increased signifying impaired synaptic transmission.; to: At least 5 individuals from 2 unrelated families reported (PMID: 33215087; 34164833) specifically with a myasthenic syndrome in association with different homozygous LoF variants in this gene (c.127delC, p.Pro43fs and c.63dupC, p.Arg22Glnfs*88, respectively). Electromyography in patients revealed decremental responses on repetitive nerve stimulation. Muscle biopsy from one proband showed the protein encoded by TOR1AIP1 was absent in myonuclei. \r\nKnockout mice exhibited fatigable muscle weakness and also decrement on repetitive nerve stimulation. Neuromuscular junctions were enlarged and fragmented, and the number of subsynaptic nuclei was significantly increased signifying impaired synaptic transmission.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:28:42.689510Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TOR1AIP1 as Amber List (moderate evidence)",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:28:42.685367Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: At least two unrelated multiplex families reported with muscle fatigability, limb girdle weakness and impaired transmission at the neuromuscular synapse. Given the strong functional support including a concordant mouse model, this gene can be promoted to Green status on this panel at the next GMS panel update.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:28:42.645777Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:21:39.565046Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_22_promote_green tag was added to gene: TOR1AIP1.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:21:30.198598Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TOR1AIP1 were set to 24856141; 31299614",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:20:26.597519Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: TOR1AIP1: Changed publications to: 33215087, 34164833",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-08T15:20:08.998860Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24856141, 27342937, 30723199, 31299614, 32055997; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:17:54.770716Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:16:38.558592Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-04-13T11:39:23.977892Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:12:01.923818Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from episodic ataxia plus myasthenic syndrome; hemiplegic migraine plus disturbed NMJ function to Lambert-Eaton myasthenic syndrome, MONDO:0018556",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2021-09-02T17:13:15.740959Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.38",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This phenotype includes features of congenital myasthenic syndrome (in some patients) according to OMIM:615352.",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2021-09-02T17:13:15.714931Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.38",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome, MONDO:0018940 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2021-08-03T09:34:35.754322Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: SYT2: Added comment: Based on the expert review by Zornitza Stark (Australian Genomics), the MOI should be changed from Monoallelic to Both monoallelic and biallelic. It should be noted that in OMIM, this gene has been given an AD MOI and in Gene2Phenotype, it has been given a biallelic MOI.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-08-03T09:32:32.835018Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: SYT2.",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-08-03T09:23:38.785436Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SYT2 were set to 26519543; 25192047; 27472506; 30533528",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:27:05.918829Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital myasthenic syndrome; presynaptic CMS",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:27:05.887536Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:26:24.585422Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:26:11.194860Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:25:41.215002Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A7 were changed from Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:25:04.978502Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic; 618197 to Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:24:23.398058Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC18A3 were changed from Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:23:39.110886Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4A were changed from Myasthenic syndrome, congenital, 16, 614198; Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes to Myasthenic syndrome, congenital, 16, OMIM:614198",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:14:27.526891Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:14:27.494722Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:12:19.699536Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; myasthenic syndrome; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:59:08.899279Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:59:08.877959Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:57:03.307418Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LRP4 were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 17, 616304 to ?Myasthenic syndrome, congenital, 17, OMIM:616304",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:56:30.569208Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome;muscular dystrophy-dystroglycanopathy;congenital muscular dystrophy with mental retardation;GMPPB-CMS;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome;MDDGC14 with features of CMS",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:56:30.539499Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS to Congenital Myasthenic Syndrome, MONDO:0018940",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:46:51.534546Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;tubular aggregates",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:46:51.511008Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GFPT1 were changed from Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:45:40.738201Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;tubular aggregates;congenital disorder of glycosylation type Ij (CDG-IJ)",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:45:40.703915Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:44:57.017618Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMyasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndrome",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:44:56.962791Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:42:33.104855Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:42:33.070005Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:41:40.167517Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:40:37.498216Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMyasthenia gravis, neonatal transient;Neonatal congenital myasthenia;escobar syndrome;fetal akinesia deformation sequence syndrome/FADS;multiple pterygium syndrome/MPS",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:40:37.466830Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNG were changed from Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS to transient neonatal myasthenia gravis, MONDO:0018326",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:20:15.439138Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Reduced channel conductance syndrome",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:20:15.418869Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNE were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:17:44.374714Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:17:44.347068Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323; Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:15:06.700629Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\n?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Myasthenic syndrome, slow-channel congenital, 601462;Congenital Myasthenic Syndrome, Dominant/Recessive",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:15:06.680357Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Congenital Myasthenic Syndrome, Dominant/Recessive to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314; Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:13:25.200636Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:13:25.172327Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; 8651643; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:12:46.760854Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 1A, slow-channel, 601462;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:12:46.745105Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA1 were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome to Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462; Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:12:14.741503Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:12:14.714906Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CHRNA1 were set to 7619526; 15034283; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:10:10.462819Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nMyasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EA",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:10:10.442278Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA to Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:09:21.633585Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes:\r\nCongenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:09:21.609760Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:07:25.290055Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2021-03-22T13:06:49.385675Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AGRN were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-01-29T16:47:12.817584Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome 24, presynaptic 618198; CMS to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:07:59.466739Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TOR1AIP1 were set to 24856141",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-12-03T13:06:25.430530Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1AIP1 were changed from Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-11-02T09:52:55.088633Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 32776697, 32250532, 30533528; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2020-07-09T11:32:50.888016Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 28733338; 23404334",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:59:48.154245Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T14:59:23.587009Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.2",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-13T11:39:06.801580Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T11:38:58.173709Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VAMP1: As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-12-10T14:36:55.796024Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-10T14:33:39.342946Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.77",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-10T14:11:27.754538Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.76",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-02T11:01:34.185627Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC25A1 as Green List (high evidence)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:01:34.180207Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Info from Tracy Lester: SLC25A1 – there is another case of CMS associated with this genes and a couple more reported in literature – can now be green on R80.",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:01:34.154797Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:00:17.869118Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TOR1AIP1 as Amber List (moderate evidence)",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:00:17.863768Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Info from Tracy Lester: TOR1AIP1 – should be amber on R80, not red, there is an unpublished case.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-12-02T11:00:17.838249Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:59:08.649839Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SYT15 as Red List (low evidence)",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:59:08.638990Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.73",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: syt15 has been classified as Red List (Low Evidence).",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:58:46.894841Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SYT15 as Amber List (moderate evidence)",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:58:46.890148Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Info from Tracy Lester : SYT15 – should be red on R80, not amber. No in-house cases as yet.",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:58:46.865030Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: syt15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-11-25T15:40:09.810091Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.71",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-16T13:51:10.571431Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: UNC13A: Changed rating: RED",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:45:18.875738Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: New gene added by reviewer. Rated as Red awaiting more information on this gene and potential disease association. gene-phenotype not listed in OMIM not publications to date supporting gene-disease association.; to: New gene added by reviewer. Rated as Red awaiting more information on this gene and potential disease association. gene-phenotype not listed in OMIM not publications to date supporting gene-disease association. To be highlighted to Test Group for further review due to potential research results ",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:43:00.753743Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SNAP25: Added comment: Leave as Red, awaiting more information on this gene and potential disease association.; Changed rating: RED",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:42:34.190611Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LAMA5: Leave as Red, awaiting more information on this gene and potential disease association.",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:42:25.885033Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CACNA1A: Leave as Red, awaiting more information on this gene and potential disease association.",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:41:57.315072Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: LAMA5: Changed rating: RED",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:41:41.840886Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CACNA1A: Changed rating: RED",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:38:54.436821Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from RYR1-related congenital myopathy with fatigable weakness to RYR1-related congenital myopathy",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:38:44.823308Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to 24951453; 30808424; 30406384",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:36:34.111539Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.68",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to 24951453; 30808424",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:35:22.838114Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from to RYR1-related congenital myopathy with fatigable weakness",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:28:17.675078Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA5 were changed from to myopia, facial tics, and failure of neuromuscular transmission",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:27:08.097916Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CACNA1A were set to ",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:25:37.449511Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from episodic ataxia plus myasthenic syndrome to episodic ataxia plus myasthenic syndrome; hemiplegic migraine plus disturbed NMJ function",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:24:15.804689Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from to episodic ataxia plus myasthenic syndrome",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:24:10.326061Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:19:01.339407Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: MYO9A: Changed rating: GREEN",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:18:34.250813Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: VAMP1: Changed rating: GREEN",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:18:25.307912Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Green List (high evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:18:25.302995Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (new publication PMID: 28168212) plus animal model and external review comment all support gene-disease association.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:18:25.278836Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Green List (High Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:15:58.274076Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: TOR1AIP1: Added comment: Applicable to panel, but currently not enough evidence to support Amber/Green rating; Changed rating: RED",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:14:47.995288Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TOR1AIP1 were set to ",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:13:12.167682Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1AIP1 were changed from to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:03:38.125244Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to 24951453",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T13:03:26.773755Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Leave as Red, awaiting more information on this gene and potential disease association.; to: Leave as Red, awaiting more information on this gene and potential disease association. From Orphanet review: GeneReview PMID: 30808424 : Primary myopathies may go along with secondary transmission disease, which does not represent congential CMS, such as in patients with congenital myopathy due to TPM2 mutations, or patients carrying mutations in KLHL40, BIN1, DNM2, MTM1, TPM3, or RYR1. Importantly, secondary transmission disease frequently responds beneficially to AchEI.",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T12:43:42.654360Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RYR1: Changed rating: RED",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T12:43:16.583738Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SYT15: Changed rating: RED",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-10-16T12:43:05.440777Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SYT15: New gene added by reviewer. Rated as Red awaiting more information on this gene and potential disease association. gene-phenotype not listed in OMIM not publications to date supporting gene-disease association.",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-10-16T12:39:52.344341Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC25A1 as Amber List (moderate evidence)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-10-16T12:39:52.341474Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by reviewer. Rated as Amber, awaiting more information on this gene and potential disease association.",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-10-16T12:39:52.324888Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:46:04.429004Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RYR1: Leave as Red, awaiting more information on this gene and potential disease association.",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:44:41.693610Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: PREPL: Changed rating: RED",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:44:35.310472Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PREPL: Leave as Red, awaiting more information on this gene and potential disease association.",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:42:35.435555Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MYO9A were set to 29462312; 27259756",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:40:26.349937Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MYO9A as Green List (high evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:40:26.345076Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:40:26.320793Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:20:00.233629Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: LAMB2: Changed rating: RED",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:18:03.968569Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LAMB2: Leave as Red, awaiting more information on this gene and potential disease association.",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:12:24.198762Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ALG2 as Green List (high evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:12:24.193709Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-10-16T11:12:24.166896Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Green List (High Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-10-14T15:30:24.294579Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.53",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Congenital myaesthenia; Congenital myasthenia to Congenital myaesthenia; Congenital myasthenia; R80",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-07T14:24:10.379210Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SYT2 as Green List (high evidence)",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-08-07T14:24:10.376651Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. PMID: 30533528 reported on a third unrelated case with a new variant in this gene. Therefore there is enough evidence to support a gene-disease association.",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-08-07T14:24:10.342203Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: syt2 has been classified as Green List (High Evidence).",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-08-07T14:22:20.794488Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review)",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-08-07T13:53:32.560729Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-08-07T13:53:32.557885Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. ALG14 is associated with a phenotype on OMIM and not on Gene2Phenotype. This gene was promoted to green gene status based on the additional evidence provided by the expert reviewer as there is now enough evidence to support a gene-disease association.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-08-07T13:53:32.526513Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:46.512121Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: LRP4 were set to PMID: 24234652; PMID: 26052878 ",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:26.770940Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC18A3 were set to PMID: 27590285 ",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:08.488093Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GMPPB were set to PMID: 26133662; PMID: 27147698 ",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:15:45.998247Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CHRNG: PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:15:38.197706Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CHRNG were set to 16826531; 22167768; 27245440; 25411939; 8040310; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:14:52.687024Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SLC5A7 were set to PMID: 27569547; PMID: 23141292 ; PMID: 26786006",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:28.444211Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: COL13A1 were set to PMID: 26626625",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:12:20.913689Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COLQ: PMID:10665486;9689136;18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages;PMID:10441569",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:11:52.278947Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages; 10441569",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:10:47.768638Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:10:42.054291Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DOK7: PMID:16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300). PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:10:20.402004Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to 16917026; 17452375; 22661499; 18626973",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:09:12.998781Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFPT1: PMID:21975507;In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous.",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:08:52.245339Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: GFPT1 were set to 21975507; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109; 23569079",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:08:07.265916Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to 16917026; 17452375; 22661499",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:07:44.836025Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DOK7: PMID: 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:07:08.605055Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); 17452375; 22661499; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:04:50.516359Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: CHRND were set to 16916845\r\n11782989 \r\n11435464",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-05-03T13:51:13.680339Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.35",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "removed gene:GRN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-04-30T09:30:13.761905Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.748170Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: UNC13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.732107Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TOR1AIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.717520Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.703663Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SYT15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.688502Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.674926Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.660978Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.646740Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC18A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.632987Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.614197Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.600666Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.585944Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.566242Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.552534Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.539048Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.525735Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.512671Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.499594Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.486862Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.474093Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GFPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.461352Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.447889Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.431115Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.413574Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.395981Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.382071Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.367899Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.353979Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHRNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.339764Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.325832Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.309598Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.296181Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.282281Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:30:13.266633Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:27:20.929477Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: VAMP1 were set to 28168212",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:26:24.261171Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SYT2 were set to 26519543",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:24:09.120231Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: MYO9A were set to 29462312",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:23:31.076574Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: LAMB2 were set to 19251977",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:22:42.974713Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: LAMB2 were set to 19251977; 27472506 (Review)",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:22:13.166498Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: LAMB2 were set to 19251977",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:18:25.488936Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome; CMS to congenital myasthenic syndrome 24, presynaptic 618198; CMS",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:17:23.508612Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:14:14.868582Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 28733338; 23404334",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-30T09:13:11.978983Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: AGRN were set to 24951643",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:39:14.028916Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: PREPL were set to 29483676; 28726805",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:44.834870Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ALG14 were set to 28733338",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:18.173289Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene VAMP1 were changed from 28253535 to 28168212",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:18.069444Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene UNC13A were changed from to 27648472",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:17.865980Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene SYT2 were changed from 25192047; 27472506 (Review); 26519543 to 26519543",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:17.523065Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene SLC25A1 were changed from to 26870663",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:17.339272Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene SCN4A were changed from to http://dx.doi.org/10.1016/j.nmd.2015.06.091",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:17.090684Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene PREPL were changed from 24610330; 27472506 (Review) to 29483676; 28726805",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:16.924044Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene MYO9A were changed from 27259756 to 29462312",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:16.687632Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene LAMB2 were changed from 19251977; 27472506 (Review) to 19251977",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:16.598160Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene LAMA5 were changed from to 28544784",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:15.416745Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene ALG14 were changed from PMID: 23404334 to 28733338",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:38:15.318269Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene AGRN were changed from 22205389; 24951643; 19631309 to 24951643",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:36:07.336862Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to ",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:36:00.408672Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:35:50.634111Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:35:44.690469Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:35:16.042443Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOR1AIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:35:05.949899Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13A was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:31.002797Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28168212; Phenotypes: Congenital myasthenic syndrome, presynaptic CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.989158Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: ; Publications: 27648472; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.975331Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: TOR1AIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.961427Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, 616040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.932644Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SYT15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.916038Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myasthenic syndrome, congenital, 18, 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.899138Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Hereditory motor neuropathy, Myasthenic syndrome, congenital, 20, presynaptic, 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.885336Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26870663; Phenotypes: ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.870616Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, ophthalmopleggia and apnea, Myasthenic syndrome, congenital, 21, presynaptic, 617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.854401Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: http://dx.doi.org/10.1016/j.nmd.2015.06.091; Phenotypes: Myasthenic syndrome, congenital, 16, 614198, Congenital Myasthenic Syndrome, Recessive, congenital myasthenic syndromes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.838614Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24951453; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.823878Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326, acute respiratory crises, late and early onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.806156Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 29483676, 28726805; Phenotypes: myasthenic syndrome, congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency, ?Myasthenic syndrome, congenital, 22, 616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.789789Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Plectin deficiency, myasthenic syndrome, Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) 226670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.776108Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29462312; Phenotypes: congenital myasthenic syndrome 24, presynaptic 618198, CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.761833Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325, Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.745298Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 17, 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.732089Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19251977; Phenotypes: Congenital myasthenic syndrome, congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations, synaptic congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.713528Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: ; Publications: 28544784; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.697540Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, muscular dystrophy-dystroglycanopathy, congenital muscular dystrophy with mental retardation, GMPPB-CMS, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome, MDDGC14 with features of CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.683218Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Myasthenia, congenital, 12, with tubular aggregates, 610542, Limb-girdle congenital myasthenic syndrome, tubular aggregates; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.669231Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, 608093, Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750, Limb girdle congenital myasthenic, tubular aggregates, congenital disorder of glycosylation type Ij (CDG-IJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.652856Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, 254300, Myasthenia, limb-girdle, familial, Limb girdle congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.636357Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency, Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.621727Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome type 19, Myasthenic syndrome, congenital, 19, 616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.604304Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenia gravis, neonatal transient, Neonatal congenital myasthenia, escobar syndrome, fetal akinesia deformation sequence syndrome/FADS, multiple pterygium syndrome/MPS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.587523Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809, Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, Reduced channel conductance syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.573549Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323, Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.558135Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314, Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, Myasthenic syndrome, slow-channel congenital, 601462, Congenital Myasthenic Syndrome, Dominant/Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.543373Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, congenital, 1A, slow-channel, 601462, Myasthenic syndrome, congenital, 1B, fast-channel, 608930, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.528375Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210, Congenital myasthenics sndrome associated with episodic apnea, CMS-EA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.511427Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.494444Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndromes, Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, Congenital disorder of glycosylation CDG type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.480282Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 28733338; Phenotypes: Congenital myasthenic syndrome, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:33:30.465348Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.14",
"user_name": "Michael Oldridge",
"item_type": "entity",
"text": "reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24951643; Phenotypes: Congenital myasthenic syndrome, Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.659785Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.551719Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UNC13A.",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.449052Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TOR1AIP1.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.342219Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SYT2.",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.245579Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SYT15.",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.144995Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SNAP25.",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:31.037180Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC5A7.",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.940206Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC25A1.",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.838382Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC18A3.",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.740971Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SCN4A.",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.639774Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RYR1.",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.541209Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RAPSN.",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.450869Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PREPL.",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.341810Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLEC.",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.250222Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MYO9A.",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.155845Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MUSK.",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:30.062750Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LRP4.",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.963501Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LAMB2.",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.872727Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LAMA5.",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.776922Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GMPPB.",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.687814Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GFPT1.",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.598980Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DPAGT1.",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.503911Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DOK7.",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.405810Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COLQ.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.313565Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COL13A1.",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.225819Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHRNG.",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.138759Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHRNE.",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:29.040597Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHRND.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.950513Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHRNB1.",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.862185Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.776309Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.688446Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CACNA1A.",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.593925Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ALG2.",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.487326Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ALG14.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:04:28.361655Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AGRN.",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:38.071873Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to VAMP1.",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:38.003734Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UNC13A was added\ngene: UNC13A was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: UNC13A was set to ",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.943521Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TOR1AIP1 was set to ",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.863933Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SYT2.",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.797475Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SYT15 was added\ngene: SYT15 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SYT15 was set to ",
"entity_name": "SYT15",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.717612Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SNAP25.",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.633937Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SLC5A7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.567265Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC25A1 was added\ngene: SLC25A1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SLC25A1 was set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.487801Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SLC18A3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.391604Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SCN4A.",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.323446Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RYR1 was set to ",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.239906Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to RAPSN.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.149527Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to PREPL.",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:37.061942Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to PLEC.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.962305Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to MYO9A.",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.871019Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to MUSK.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.778728Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to LRP4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.697184Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to LAMB2.",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.633930Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LAMA5 was added\ngene: LAMA5 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: LAMA5 was set to ",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.552737Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to GMPPB.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.466725Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to GFPT1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.382837Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to DPAGT1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.301649Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to DOK7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.203807Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to COLQ.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.114346Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to COL13A1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:36.033642Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CHRNG.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.949265Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CHRNE.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.867591Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CHRND.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.787362Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CHRNB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.706596Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CHRNA1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.622779Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to CHAT.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.558454Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CACNA1A was added\ngene: CACNA1A was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CACNA1A was set to ",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.478790Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to ALG2.",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.396874Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to ALG14.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2019-04-29T16:03:35.310446Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to AGRN.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:53:56.151585Z",
"panel_name": "Congenital myaesthenic syndrome",
"panel_id": 232,
"panel_version": "1.10",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Congenital myaesthenia to Congenital myaesthenic syndrome\nList of related panels changed from Congenital myasthenia to Congenital myaesthenia; Congenital myasthenia\nPanel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-10-24T16:13:04.747000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified VAMP1 as amber",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2017-10-24T16:12:04.063000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "added VAMP1 to panel",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2017-10-24T16:12:03.745000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed VAMP1",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2017-02-28T16:15:52.068000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified MYO9A as amber",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2017-02-27T09:57:30.014000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on MYO9A",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2017-02-22T13:47:49.496000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-02-22T12:11:13.026000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ALG2 as amber",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2017-02-22T12:06:09.562000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified PLEC as green",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-20T15:09:59.066000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified PLEC as amber",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-20T15:07:13.351000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLEC",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-09T09:11:09.739000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of DOK7",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2017-02-09T09:10:48.701000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on COLQ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2017-02-07T16:59:25.972000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PREPL",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2017-02-07T16:25:22.219000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified COL13A1 as green",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-02-07T16:23:08.259000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SLC18A3 as green",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2017-02-07T16:17:32.816000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified LRP4 as green",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2017-02-07T15:39:45.983000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PREPL",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2017-02-07T15:31:32.754000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified GRN as grey",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2017-02-07T15:31:32.753000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on GRN",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2017-02-07T15:22:52.870000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified AGRN as green",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2017-02-06T12:37:30.941000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified GMPPB as green",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2017-02-06T12:21:27.777000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLEC",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:32:20.378000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLEC",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:32:12.404000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLEC",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:31:52.041000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PLEC",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:08:19.083000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SNAP25",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:03:12.056000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PREPL",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:03:02.369000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on PREPL",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2017-02-06T11:01:46.981000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on LAMB2",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:54:29.026000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SYT2 as red",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:33:43.337000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SLC5A7 as green",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:31:58.483000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of SLC5A7",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:23:18.330000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC5A7",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:20:13.037000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC18A3",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:16:47.190000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC18A3",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2017-02-02T15:10:05.481000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC18A3",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:59:26.882000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on LRP4",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:42:02.944000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of GFPT1",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:35:24.693000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SYT2",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:16:34.239000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on LRP4",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:16:25.353000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on LRP4",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2017-02-02T13:58:22.117000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on GMPPB",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2017-02-02T12:02:18.205000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified COL13A1 as amber",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:59:50.442000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on COL13A1",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:53:56.349000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on COL13A1",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:53:07.064000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of COL13A1",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:43:06.975000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on COL13A1",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:35:48.323000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified ALG14 as red",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:30:55.646000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ALG14",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:27:28.636000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CHRNG as ready",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:26:24.001000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified CHRNG as green",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:24:40.721000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHRNG",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2017-02-02T11:23:31.880000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of CHRNG",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:36:18.074000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHRNG",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:19:38.314000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on AGRN",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:16:59.411000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on AGRN",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:15:45.285000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of AGRN",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:14:07.384000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on AGRN",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:01:30.597000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ALG2",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:00:25.809000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ALG2",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2017-01-31T15:58:45.102000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of ALG2",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2017-01-31T15:57:09.239000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on ALG2",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2017-01-31T15:02:47.194000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked DPAGT1 as ready",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-31T15:02:05.823000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified DPAGT1 as green",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-31T15:01:07.186000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DPAGT1",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-31T15:00:55.792000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DPAGT1",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:55:10.917000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of DPAGT1",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:54:14.622000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DPAGT1",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:48:50.953000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:48:21.710000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified COLQ as green",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:47:44.702000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of COLQ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:39:04.893000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on COLQ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:33:27.343000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SCN4A",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:25:40.853000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SCN4A",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:12:18.077000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SCN4A",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:11:32.436000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SCN4A",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2017-01-31T14:11:13.471000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SCN4A",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2017-01-31T13:50:59Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2017-01-31T13:48:11.139000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RAPSN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2017-01-31T13:46:34.458000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of RAPSN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2017-01-31T13:44:09.897000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on RAPSN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2017-01-27T17:09:00.135000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "added LRP4 to panel",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2017-01-27T17:08:59.939000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed LRP4",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:54:54.131000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "added SLC18A3 to panel",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:54:53.932000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed SLC18A3",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:48:28.870000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "added GMPPB to panel",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:48:28.694000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed GMPPB",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:39:12.021000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed CHRNG",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:27:17.528000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "added SLC5A7 to panel",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2017-01-27T16:27:17.355000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed SLC5A7",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2017-01-27T10:21:39.321000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "added ALG14 to panel",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2017-01-27T10:21:39.170000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed ALG14",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2017-01-27T09:24:49.567000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed ALG2",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2017-01-26T17:16:46.867000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked MUSK as ready",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2017-01-26T17:15:22.405000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on MUSK",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2017-01-26T17:14:10.944000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of MUSK",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2017-01-26T17:07:04.668000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on MUSK",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2017-01-26T17:04:09.690000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked GFPT1 as ready",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2017-01-26T16:57:13.931000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on GFPT1",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2017-01-26T16:29:55.891000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked DOK7 as ready",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2017-01-26T16:22:16.247000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on DOK7",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2017-01-26T16:16:15.523000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2017-01-26T16:02:53.564000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHRNE",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2017-01-26T15:57:49.248000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2017-01-26T15:46:47.073000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHRND",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2017-01-26T15:30:45.776000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of CHRNB1",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2017-01-26T15:30:20.749000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CHRNB1 as ready",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2017-01-26T15:00:43.457000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHRNB1",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2017-01-26T14:41:40.310000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2017-01-26T14:30:03.522000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHRNA1",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2017-01-26T14:12:20.761000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "marked CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2017-01-26T13:51:44.302000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on CHAT",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2017-01-26T12:12:52.041000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "added COL13A1 to panel",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-01-26T12:12:51.900000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed COL13A1",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2017-01-26T12:03:49.792000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed AGRN",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2017-01-25T17:12:14.496000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed DPAGT1",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2017-01-25T17:05:11.464000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed COLQ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2017-01-25T16:57:35.222000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed RAPSN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2017-01-25T16:52:40.815000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed MUSK",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2017-01-25T16:37:46.881000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "edited their review of DOK7",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2017-01-25T16:35:55.159000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed GFPT1",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2017-01-24T17:20:24.489000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed DOK7",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2017-01-24T17:12:40.085000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed CHRNE",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2017-01-24T16:59:36.304000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed CHRND",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2017-01-24T16:46:20.529000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed CHRNB1",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2017-01-24T16:35:08.847000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "commented on CHRNA1",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2017-01-24T16:27:31.774000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed CHRNA1",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2017-01-24T16:05:57.413000Z",
"panel_name": "Congenital myaesthenia",
"panel_id": 232,
"panel_version": null,
"user_name": "David Beeson",
"item_type": "entity",
"text": "reviewed CHAT",
"entity_name": "CHAT",
"entity_type": "gene"
}
]