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[
{
"created": "2021-03-17T14:01:07.569658Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:00:41.374482Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2021-03-17T14:00:24.191412Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2021-03-17T13:59:59.005368Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-03-17T13:58:26.789163Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:37:23.585126Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T16:37:09.640624Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.2",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-05T13:14:00.475868Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-05T13:08:13.364908Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-22T20:25:54.773825Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.28",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.; to: No variants detected by CGGL Royal Brompton to date. Not enough evidence for inclusion currently.",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2019-09-22T20:25:16.629530Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.28",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.; to: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2019-09-04T16:26:46.427705Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-09-04T16:25:28.605288Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.27",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-08-23T16:55:32.700147Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.26",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-08-23T16:53:43.385906Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.26",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2019-08-22T10:43:39.628532Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R192",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-21T13:10:04.798962Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SFTPC: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:09:53.391323Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SFTPC: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:09:38.670587Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.25",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary 2, 610913",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:09:22.329514Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SFTPC were set to ",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:09:15.730104Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SFTPC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:08:57.150043Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SFTPB: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating.",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:08:50.889398Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust); to: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:07:51.563460Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SFTPB: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:07:42.052576Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.22",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary 1, 265120",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:07:24.193314Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SFTPB were set to ",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:07:17.110706Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.20",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:05:38.398896Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NKX2-1: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:05:14.867314Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:05:00.582499Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: NKX2-1 were set to ",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:02:04.014322Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCA3: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating.",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T13:00:34.676332Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCA3: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:57:59.395664Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:57:56.813629Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:57:52.145579Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:57:31.105604Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:54:18.317105Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: added MOI from expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:54:18.304882Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:48:21.051881Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ABCA3 were set to 15044640",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:48:10.790358Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ABCA3: Changed publications: 17719949",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:47:29.709966Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: added OMIM phenotype as recommended by expert reviewer",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:47:29.689555Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA3 were changed from to Surfactant metabolism dysfunction, pulmonary 3, 610921",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:46:35.071229Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: added PMID from expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust) to support gene and rating on this panel",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:46:35.050993Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ABCA3 were set to ",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:45:34.505798Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: added MOI from expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T12:45:34.491594Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCA3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-08-21T11:22:05.008272Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: added publications suggested by external review Matthew Edwards",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-08-21T11:22:04.996253Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SFTPA2 were set to ",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-08-20T16:53:35.759119Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: CSF2RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-08-20T16:44:54.701462Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SFTPA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19100526, 26568241; Phenotypes: Pulmonary fibrosis, idiopathic (OMIM: 178500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-08-20T16:34:15.988861Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 (OMIM: 610913); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2019-08-20T16:32:18.169901Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 12501227, 10712351; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1 (OMIM: 265120); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2019-08-20T16:28:20.493609Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, andl pathogenic variants reported . Multiple reports in literature and ClinVar. Strong evidence for association.; to: On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, and pathogenic variants reported . Multiple reports in literature and ClinVar. Strong evidence for association.",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-20T16:28:06.306581Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23787483, 15289765; Phenotypes: Neuroendocrine cell hyperplasia of infancy, Choreoathetosis, hypothyroidism, and neonatal respiratory distress (OMIM 610978); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-08-20T14:24:57.337731Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.11",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3 (OMIM: 610921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:14:28.002388Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SFTPA2 as Amber List (moderate evidence)",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:14:27.999625Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Awaiting feeback/evidence from GOSH, during the GMS Respiratory Specialist Test Group webex call 18th Jan 2019",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-05-16T13:14:27.974092Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: sftpa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-01-21T22:22:56.795908Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SFTPA2 was added\ngene: SFTPA2 was added to Surfactant deficiency. Sources: Expert list\nMode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic, 178500\nReview for gene: SFTPA2 was set to AMBER\nAdded comment: Gene added to panel as suggestion from GMS Respiratory Specialist Test Group webex call 18th Jan 2019- To check with GOSH regarding inclusion/rating before versioning panel \nSources: Expert list",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2019-01-21T22:17:51.691936Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: TERT: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red; Changed rating: RED",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-01-21T22:16:40.977734Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NKX2-1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-01-21T22:15:47.577024Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CSF2RB: Changed rating: RED",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-01-21T22:15:40.963715Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CSF2RB: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-01-21T22:12:51.958170Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SFTPD: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel; Changed rating: RED",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:35:44.517482Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: NKX2-1 as Green List (high evidence)",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:35:44.514769Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Discussed with respiratory specialist test group on 18/01/19. Could present with respiratory distress secondary to hypothyroidism before other syndromic features are recognised, therefore appropriate for inclusion on this panel.",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:35:44.489287Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:26:40.463523Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: CSF2RB as Red List (low evidence)",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:26:40.459944Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:26:40.435956Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: csf2rb has been classified as Red List (Low Evidence).",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:24:58.875723Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: TERT as Red List (low evidence)",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:24:58.872142Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:24:58.848495Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.6",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: tert has been classified as Red List (Low Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:22:31.941693Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: SFTPD as Red List (low evidence)",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:22:31.938395Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No reported mutations in humans.",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2019-01-20T18:22:31.914329Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: sftpd has been classified as Red List (Low Evidence).",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.604783Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Amber was added to TERT.\nRating Changed from Red List (low evidence) to Amber List (moderate evidence)",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.553769Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NKX2-1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.506176Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CSF2RB.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.455304Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SFTPD.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.408626Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SFTPC.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.358663Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SFTPB.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2018-12-05T15:01:43.292642Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABCA3.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.153720Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.142305Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.129510Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.117435Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SFTPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.102377Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.090156Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:58:11.073490Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.610862Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: TERT was set to ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.568399Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: NKX2-1 was set to ",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.527353Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CSF2RB was added\ngene: CSF2RB was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: CSF2RB was set to ",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.489651Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SFTPD was added\ngene: SFTPD was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: SFTPD was set to ",
"entity_name": "SFTPD",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.453672Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SFTPC was added\ngene: SFTPC was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: SFTPC was set to ",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.414930Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SFTPB was added\ngene: SFTPB was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: SFTPB was set to ",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2018-12-05T14:53:01.365874Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.1",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ABCA3 was added\ngene: ABCA3 was added to Surfactant deficiency. Sources: NHS GMS\nMode of inheritance for gene: ABCA3 was set to ",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2018-11-16T13:53:58.756452Z",
"panel_name": "Surfactant deficiency",
"panel_id": 551,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Surfactant deficiency\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]