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[
{
"created": "2024-01-07T20:09:14.867855Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: PDGFRB was added\ngene: PDGFRB was added to Corneal dystrophy. Sources: Literature\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDGFRB were set to 33450762\nReview for gene: PDGFRB was set to RED\nAdded comment: PMID: 33450762 - Bedrup et al 2021 - report a case of a dominant activating substitution in PDGFRB, NM_002609.3(PDGFRB):c.1996A > T, p.(Asn666Tyr), in a family with Ocular pterygium-digital keloid dysplasia (OPDKD) in which ingrowth of vascularized connective tissue on the cornea leads to severely reduced vision. The variant is affecting the same codon as reported for Penttinen syndrome (which causes widespread destruction of connective tissue causing severe disfigurement). However, unlike the Penttinen syndrome substitution, it was found that the OPDKD substitution is highly activated only at 32°C which is in cocordance with the fact that OPDKD are restricted to body parts (cornea and digits) with lower and more variable temperature than the core temperature. \nSources: Literature",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2023-11-10T17:19:59.279423Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: LTBP2 as Amber List (moderate evidence)",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2023-11-10T17:19:59.275695Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene could be promoted to Green at the next GMS panel update.",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2023-11-10T17:19:59.251311Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ltbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2023-11-10T17:19:41.157061Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: LTBP2 was added\ngene: LTBP2 was added to Corneal dystrophy. Sources: Literature\nQ4_23_promote_green tags were added to gene: LTBP2.\nMode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738; 22539340; 20617341; 22025892\nPhenotypes for gene: LTBP2 were set to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750; Glaucoma 3, primary congenital, D, OMIM:613086; Weill-Marchesani syndrome 3, recessive, OMIM:614819\nReview for gene: LTBP2 was set to GREEN\nAdded comment: Variants in this gene are typically associated with ocular abnormalities, including microspherophakia, megalocornea, ectopia lentis and glaucoma. At least three unrelated individual cases have been associated with megalocornea. This gene was rated as green on the Corneal abnormalities 100K panel and is associated with a relevant phenotype in OMIM and Gene2Phenotype. \nSources: Literature",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2023-09-07T14:18:55.159976Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2023-09-07T13:52:47.372054Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2023-03-22T18:09:17.269535Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.3",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.2 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T18:08:59.439716Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.2",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel signed off version 3.0 has been removed",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:04:15.973437Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:03:48.381830Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"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": "2023-03-22T12:20:04.719550Z",
"panel_name": "Corneal dystrophy",
"panel_id": 658,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel name changed from Corneal dystrophies to Corneal dystrophy\nList of related panels changed from R262 to Corneal dystrophies; R262",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-30T11:30:03.205216Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_22_MOI was removed from gene: TGFBI.",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2023-01-30T11:28:41.112113Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: TGFBI",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2023-01-30T11:28:21.845412Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to TGFBI.\nMode of inheritance for gene TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:59:48.134998Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "2.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:58:57.389505Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "2.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-27T15:24:06.420162Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_MOI tag was added to gene: TGFBI.",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2022-04-19T13:57:29.373525Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COL17A1 were changed from Epithelial recurrent erosion dystrophy 122400 to Epithelial recurrent erosion dystrophy, OMIM:122400",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2022-04-06T14:07:54.820334Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type 105120 to Amyloidosis, Finnish type, OMIM:105120",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-04-06T14:03:56.538529Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL2 were changed from Corneal dystrophy, posterior polymorphous, 4 618031 to Corneal dystrophy, posterior polymorphous, 4, OMIM:618031",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-03-18T13:47:25.885242Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TGFBI: Rating: ; Mode of pathogenicity: None; Publications: 31322463, 30830990, 32952948; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:36:32.123191Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MIR184.",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:23:14.934307Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MIR184: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:23:07.881406Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to MIR184.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:46:54.502920Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021).; to: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Nov 2021).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:51:09.385350Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, 613267 to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-11-30T20:55:16.924419Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.7",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: TCF4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-11-30T16:59:18.073955Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-11-30T16:59:18.045851Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to 29526280; 26401622",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2020-12-15T10:59:24.652236Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: VSX1 as Red List (low evidence)",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2020-12-15T10:59:24.646817Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease association for this gene; however, this gene has been given a Red rating as it does not fit in the scope of the clinical indication for this panel.",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2020-12-15T10:59:24.598794Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: vsx1 has been classified as Red List (Low Evidence).",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2020-12-15T10:59:22.270045Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: VSX1 were changed from Keratoconus 1, MIM#\t148300 to Keratoconus 1, OMIM:148300, MONDO:0007851",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2020-12-04T16:05:58.661366Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MIR184: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2020-12-04T16:02:09.672696Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MIR184.",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:38:19.773584Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MIR184 were changed from EDICT syndrome 614303 to EDICT syndrome OMIM:614303, MONDO:0013678",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2020-07-27T08:59:00.077978Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VSX1 was added\ngene: VSX1 was added to Corneal dystrophies. Sources: Expert list\nMode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VSX1 were set to Keratoconus 1, MIM#\t148300\nReview for gene: VSX1 was set to GREEN\ngene: VSX1 was marked as current diagnostic\nAdded comment: Keratoconus is a corneal dystrophy. \nSources: Expert list",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2020-07-27T08:51:30.255421Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EDICT syndrome, MIM# 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2020-02-19T14:28:37.677972Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-05T09:36:18.031729Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-05T09:31:21.246376Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T15:41:00.133109Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R262",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T10:43:20.663781Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TCF4 as Green List (high evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:43:20.655893Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2019-07-31T10:43:13.894528Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TCF4 was added\ngene: TCF4 was added to Corneal dystrophies. Sources: Expert list\nSTR tags were added to gene: TCF4.\nMode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCF4 were set to 29526280; 26401622\nPhenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, 613267\nReview for gene: TCF4 was set to GREEN\nAdded comment: TCF4 is associated with Corneal dystrophy in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be rated green on this panel. It should be noted that the CTG18.1 repeat expansion in the intronic region of TCF4 may be difficult to analyse due to technical difficulties with short-read WGS. \nSources: Expert list",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.863578Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 2370048, 1859405, 1681161; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.852559Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21664999, 22122778; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.838412Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: ; Publications: 18452888, 19661234, 20938016; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.824521Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 3169744, 9252398, 1539590; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.809667Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 2153578, 1652889, 8388189; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.794881Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14562173, 19710953, 25564336; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.783992Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16252232, 2003649; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.769747Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668063, 17962451, 18176953; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "UBIAD1",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.754537Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17962451, 17668063, 23169578; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.736942Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10192395, 17898270; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TACSTD2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.721731Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767101, 16825429; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.704770Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: ; Publications: 26396486, 23288988, 15902656; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PIKFYVE",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.688556Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26749309; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "OVOL2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.669741Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: ; Publications: 21996275, 25157590, 24138095; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.654498Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171831, 16227835, 188806880; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KRT3",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.635866Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171931, 8759347, 10644419; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.624033Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23834557, 10802664, 11726611; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KERA",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.607415Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499165; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.591854Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15671264, 16935612, 24413633; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DCN",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.581484Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11689488; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "COL8A2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:30:54.564885Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.3",
"user_name": "Morag Shanks",
"item_type": "entity",
"text": "reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11017086, 11818380, 15013869; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:34.065505Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCAT were set to 1859405; 2370048; 1681161\nPhenotypes for gene: LCAT were set to Fish-eye disease 136120; Norum disease 245900",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:34.017780Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PRDM5 was added\ngene: PRDM5 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM5 were set to 22122778; 21664999\nPhenotypes for gene: PRDM5 were set to Brittle cornea syndrome 614170",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.975567Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZNF469 was added\ngene: ZNF469 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF469 were set to 20938016; 19661234; 18452888\nPhenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1 229200",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.935211Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: STS was added\ngene: STS was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: STS were set to 1539590; 3169744; 9252398\nPhenotypes for gene: STS were set to Ichthyosis, X-linked",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.892918Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GSN was added\ngene: GSN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GSN were set to 2153578; 1652889; 8388189\nPhenotypes for gene: GSN were set to Amyloidosis, Finnish type 105120",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.849475Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COL17A1 was added\ngene: COL17A1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: COL17A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL17A1 were set to 25564336; 19710953; 14562173\nPhenotypes for gene: COL17A1 were set to Epithelial recurrent erosion dystrophy 122400",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.810574Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZEB1 was added\ngene: ZEB1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZEB1 were set to 2003649; 16252232\nPhenotypes for gene: ZEB1 were set to Corneal dystrophy, posterior polymorphous, 3 609141; Corneal dystrophy, Fuchs endothelial, 6 613270",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.773165Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: UBIAD1 was added\ngene: UBIAD1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBIAD1 were set to 17962451; 18176953; 17668063\nPhenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type 121800",
"entity_name": "UBIAD1",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.728387Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TGFBI was added\ngene: TGFBI was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGFBI were set to 17962451; 23169578; 17668063\nPhenotypes for gene: TGFBI were set to Corneal dystrophy, Groenouw type I 121900; Corneal dystrophy, Avellino type 607541; Corneal dystrophy, Thiel-Behnke type 602082; Corneal dystrophy, lattice type I 122200; Corneal dystrophy, Reis-Bucklers type 608470; Corneal dystrophy, epithelial basement membrane 121820; Corneal dystrophy, lattice type IIIA 608471",
"entity_name": "TGFBI",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.672237Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TACSTD2 was added\ngene: TACSTD2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TACSTD2 were set to 17898270; 10192395\nPhenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like 204870",
"entity_name": "TACSTD2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.624327Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SLC4A11 was added\ngene: SLC4A11 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A11 were set to 16767101; 16825429\nPhenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4 613268; Corneal endothelial dystrophy and perceptive deafness 217400; Corneal endothelial dystrophy, autosomal recessive 217700",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.585250Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PIKFYVE was added\ngene: PIKFYVE was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIKFYVE were set to 26396486; 15902656; 23288988\nPhenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy 121850",
"entity_name": "PIKFYVE",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.549723Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: OVOL2 was added\ngene: OVOL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: OVOL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OVOL2 were set to 26749309\nPhenotypes for gene: OVOL2 were set to Corneal dystrophy, posterior polymorphous, 1 122000",
"entity_name": "OVOL2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.514466Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MIR184 was added\ngene: MIR184 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR184 were set to 25157590; 21996275; 24138095\nPhenotypes for gene: MIR184 were set to EDICT syndrome 614303",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.472719Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KRT3 was added\ngene: KRT3 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT3 were set to 9171831; 188806880; 16227835\nPhenotypes for gene: KRT3 were set to Meesmann corneal dystrophy 122100",
"entity_name": "KRT3",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.433580Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KRT12 was added\ngene: KRT12 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT12 were set to 9171931; 10644419; 8759347\nPhenotypes for gene: KRT12 were set to Meesmann corneal dystrophy 122100",
"entity_name": "KRT12",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.390152Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KERA was added\ngene: KERA was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KERA were set to 23834557; 11726611; 10802664\nPhenotypes for gene: KERA were set to Cornea plana 2 217300",
"entity_name": "KERA",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.348417Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GRHL2 was added\ngene: GRHL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRHL2 were set to 29499165\nPhenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4 618031",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.310767Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DCN was added\ngene: DCN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: DCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DCN were set to 24413633; 15671264; 16935612\nPhenotypes for gene: DCN were set to Corneal dystrophy, congenital stromal 610048",
"entity_name": "DCN",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.272532Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COL8A2 was added\ngene: COL8A2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL8A2 were set to 11689488\nPhenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1 136800; Corneal dystrophy, posterior polymorphous 2 609140",
"entity_name": "COL8A2",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:29:33.234778Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CHST6 was added\ngene: CHST6 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green\nMode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST6 were set to 15013869; 11818380; 11017086\nPhenotypes for gene: CHST6 were set to Macular corneal dystrophy 217800",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2019-04-01T14:17:31.179271Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.1",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-04-01T13:57:47.900904Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "0.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Added Panel Corneal dystrophies\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]