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[
{
"created": "2024-05-02T13:54:07.201058Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_MOI was removed from gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:53:51.046039Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: PYGM.\nTag Q3_23_NHS_review was removed from gene: PYGM.",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:53:42.017789Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: NBAS.\nTag Q3_23_NHS_review was removed from gene: NBAS.",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:53:32.917572Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: MVK.\nTag Q4_23_NHS_review was removed from gene: MVK.",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:53:22.092580Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: MPDZ.\nTag Q3_23_NHS_review was removed from gene: MPDZ.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:53:04.729377Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: MIR204.\nTag Q3_23_NHS_review was removed from gene: MIR204.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:52:40.925329Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, OMIM:252650",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:52:31.757089Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: MCOLN1.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:48:36.009808Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_promote_green was removed from gene: DYNC2H1.",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:48:13.012763Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: CTNND1.",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:48:03.332885Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: CFAP20.",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:05.499179Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:05.356197Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to PYGM.\nSource Expert Review Green was added to PYGM.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:05.187761Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to NBAS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:05.028511Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to MVK.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:04.468043Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to MPDZ.\nSource Expert Review Green was added to MPDZ.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:04.218041Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to MIR204.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:03.965299Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to MCOLN1.\nSource Expert Review Green was added to MCOLN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:03.761451Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to DYNC2H1.\nSource Expert Review Green was added to DYNC2H1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:03.458860Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to CTNND1.\nSource Expert Review Green was added to CTNND1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:46:03.288537Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source NHS GMS was added to CFAP20.\nSource Expert Review Green was added to CFAP20.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.255460Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: RPE65: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.236462Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.212593Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.190444Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.160369Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.132709Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.102503Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.061464Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:53.009438Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2024-05-02T13:45:52.971368Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CFAP20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2024-05-01T12:45:58.358248Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 5.0 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-01T12:45:45.764461Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "5.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 5.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-24T16:37:26.251948Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651 to Lowry-Wood syndrome, OMIM:226960; Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:46:52.038719Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_NHS_review tag was added to gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:26:50.460426Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_NHS_review tag was added to gene: SLC37A3.",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:26:06.809386Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SLC37A3 as Amber List (moderate evidence)",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:26:06.804645Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:26:06.772660Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.89",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: slc37a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:24:38.614078Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.88",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa; No OMIM entry to retinitis pigmentosa, MONDO:0019200",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:24:12.995556Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.87",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SLC37A3 were set to 28041643",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:23:49.829344Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.86",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: SLC37A3.",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T20:22:42.727196Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.86",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:37:14.763407Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.86",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:31:08.587389Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.86",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MT-ATP6 as Amber List (moderate evidence)",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:31:08.583258Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.86",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is ample evidence available for the association of MT-ATP6 gene with retinitis pigmentosa. Hence, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:31:08.547798Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.86",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:29:43.473109Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.85",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ATP6 were changed from Retinitis pigmentosa to NARP syndrome, MONDO:0010794",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:29:31.786192Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.84",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MT-ATP6 were set to ",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:28:08.345773Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.83",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-17T18:27:51.265114Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.83",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11843698, 17568559, 19124644, 22819295, 23266623, 24118886, 27015314, 29054413, 29224958, 36809201; Phenotypes: NARP syndrome, MONDO:0010794; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-04-10T14:59:03.340770Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: This gene is associated with occult macular dystrophy (monoallelic variants) and retinitis pigmentosa (biallelic variants) (https://omim.org/entry/608581) with sufficient cases reported for each phenotype. Currently the monoallelic phenotype is not represented on any GMS panels. \r\n\r\nFollowing curation and consultation with the Genomics England clinical team, there was agreement that macular dystrophy is part of the phenotypic target for this panel. Based on previous reviews, it is not clear why the monoallelic MOI was overwritten and therefore this gene will be flagged for specialist review to determine whether the MOI should stay as 'biallelic' or be updated to 'both mono- and biallelic'.",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-10T14:59:03.305513Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.83",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-10T14:50:31.070952Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_24_MOI tag was added to gene: RP1L1.\nTag Q2_24_expert_review tag was added to gene: RP1L1.",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-02T14:24:03.784974Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-04-02T09:43:34.145612Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: SAMD7",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-03-09T17:03:20.037037Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.81",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35486108; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:16:07.280185Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.81",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MT-TL1 as Amber List (moderate evidence)",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:16:07.274082Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.81",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:16:07.243701Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.81",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:15:12.947060Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.80",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TL1 were changed from Retinitis pigmentosa to Retinal dystrophy, HP:0000556; Macular dystrophy, HP:0007754",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:14:48.966354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.79",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MT-TL1 were set to ",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:14:30.619916Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.78",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: MT-TL1.\nTag Q1_24_NHS_review tag was added to gene: MT-TL1.",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T19:14:06.658962Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.78",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18332310, 23806424; Phenotypes: Retinal dystrophy, HP:0000556, Macular dystrophy, HP:0007754; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:18:19.625208Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.78",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TTC21B as Amber List (moderate evidence)",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:18:19.620977Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.78",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Siying Lin, an additional case has been seen with the inherited retinal disease service at Moorfields Eye Hospital and was reported with a homozygous variant in 100k genome project.\r\n\r\nAs there are three cases reported with retinal dystrophy, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:18:19.592152Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.78",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:14:12.910988Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.77",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: TTC21B.\nTag Q1_24_NHS_review tag was added to gene: TTC21B.",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:13:46.269003Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.77",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: TTC21B: Changed rating: GREEN",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:08:27.194890Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.77",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: JAG1 as Amber List (moderate evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:08:27.191164Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.77",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:08:27.169120Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.77",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:07:44.067875Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.76",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from Alagille syndrome 1, OMIM:118450 to Alagille syndrome 1, OMIM:118450; exudative vitreoretinopathy, MONDO:0019516",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:07:29.605395Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.75",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: JAG1 were set to ",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:07:06.573200Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: JAG1.\nTag Q1_24_NHS_review tag was added to gene: JAG1.",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-28T18:06:48.555512Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273345, 34185059; Phenotypes: Alagille syndrome 1, OMIM:118450, exudative vitreoretinopathy, MONDO:0019516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:23:09.724328Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: SAMD7.\nTag Q1_24_NHS_review tag was added to gene: SAMD7.",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:22:04.015652Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SMAD7 has not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.; to: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SAMD7 have not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:21:34.070585Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SMAD7 variants. Of these patients from four families had macular dystrophy with cone dysfunction, while patients from two families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SAMD7 variants. Of these, patients from four families had macular dystrophy with cone dysfunction, while patients from two other families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:20:03.278745Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SAMD7 as Amber List (moderate evidence)",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:20:03.274129Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SMAD7 variants. Of these patients from four families had macular dystrophy with cone dysfunction, while patients from two families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:20:03.248205Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.74",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: samd7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:15:36.772685Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.73",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SMAD7 has not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:15:36.757453Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.73",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SAMD7 were changed from Macular dystrophy; cone dystrophy to macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:12:11.398606Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.72",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SAMD7 were set to PMID: 38272031",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-26T17:11:38.434073Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38272031; Phenotypes: macular dystrophy, retinal, MONDO:0031166, Congenital stationary cone dysfunction, HP:0030637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-21T16:36:54.293982Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "changed review comment from: Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and have also been seen in within our inherited retinal dystrophy clinical cohort.; to: Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and these retinal findings have also been seen in at least 2 unrelated patients with Alagille syndrome within our inherited retinal dystrophy clinical cohort",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-21T15:25:43.046692Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34185059; Phenotypes: Retinal dystrophy, peripheral chorioretial atrophy, Alagille syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-02-21T15:02:40.553044Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Retinal dystrophy, renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-02-21T14:41:41.373561Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 18332310, 23806424; Phenotypes: retinal dystrophy, macular dystrophy, chorioretinal atrophy, MELAS; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2024-02-21T14:30:56.333319Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "STR: ATXN7_CAG was added\nSTR: ATXN7_CAG was added to Retinal disorders. Sources: Literature\nMode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN7_CAG were set to PMID: 27632585,\nPhenotypes for STR: ATXN7_CAG were set to Maculopaty; Cone-Rod Dystrophy\nReview for STR: ATXN7_CAG was set to GREEN\nAdded comment: PMID: 27632585 (father of proband), this ARVO abstract ( https://iovs.arvojournals.org/article.aspx?articleid=2768575) and cases from our clinical cohort, demonstrate that affected individuals can present with a seemingly isolated maculopathy or cone-rod dystrophy that precedes the onset of neurological symptoms \nSources: Literature",
"entity_name": "ATXN7_CAG",
"entity_type": "str"
},
{
"created": "2024-02-21T14:07:19.970802Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "gene: SAMD7 was added\ngene: SAMD7 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: SAMD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMD7 were set to PMID: 38272031\nPhenotypes for gene: SAMD7 were set to Macular dystrophy; cone dystrophy\nPenetrance for gene: SAMD7 were set to unknown\nMode of pathogenicity for gene: SAMD7 was set to Other\nReview for gene: SAMD7 was set to GREEN\nAdded comment: 5 different variants identified in homozygosity in 6 families from varying ethnicities (Pakistani, African, Yemenite Jewish, Berber/Morocccan) segregating with disease. All affected individuals presented with macular dystrophy, a few had additional cone system involvement. Immunofluorescence studies show SAMD7 localisation to inner and outer nuclear layers of the human retina. \nSources: Literature",
"entity_name": "SAMD7",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:57:38.114221Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CNGA1 were set to ",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:55:28.653449Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update - could not find any evidence to suggest that heterozygous variants can lead to disease. Family members of patients that are heterozygous carriers are unaffected.",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:55:28.614620Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNGA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:52:21.019023Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_24_MOI tag was added to gene: CNGA1.",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:51:28.163643Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNGA1 were changed from Retinitis pigmentosa 49, RP49 (AR); Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 49, 613756 to Retinitis pigmentosa 49, OMIM:613756",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:19:26.155323Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.68",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: LRRC32 as Amber List (moderate evidence)",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:19:26.147666Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.68",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two different homozygous LRRC32 variants reported (c.1630C>T/ p.Arg544Ter & c.1354 G>A/ p.Glu452Lys) in three unrelated families, of which p.Arg544Ter variant reported in two families was suggested to be a founder variant as indicated by haplotype analysis. Hence, this gene should be rated amber with current evidence.",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:19:26.117652Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.68",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: lrrc32 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:19:12.984933Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.67",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene has already been associated with relevant phenotypes in OMIM (MIM #619074), but not yet in Gene2Phenotype.",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:19:12.939256Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.67",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC32 were changed from Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:13:35.861870Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.66",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC32 were changed from Cleft palate, proliferative retinopathy, and developmental delay to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:13:26.688003Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.65",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: LRRC32 were set to PMID: 30976112; PMID: 35656379",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:13:08.184606Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.64",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T15:11:10.742373Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.64",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag founder-effect tag was added to gene: LRRC32.",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-02-20T14:52:50.593428Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.64",
"user_name": "Andrew Webster",
"item_type": "entity",
"text": "reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: Other; Publications: PubMed: 8095070, 33600551, 8476414; Phenotypes: retinal dystrophy, macular dystrophy, retinitis pigmentosa, neuropathy, ataxia.; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2024-02-20T13:59:50.248710Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.64",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2024-02-20T13:02:31.668429Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.63",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.; to: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.\r\nThere are no further reports of monoallelic Myopathy, mitochondrial, and ataxia (OMIM:617675).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2024-02-20T13:00:29.145189Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.63",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: 28554942, 37431817; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:55:45.315983Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.63",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: UBAP1L as Amber List (moderate evidence)",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:55:45.306066Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.63",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with four different UBAP1L variants reported with either Rod-cone dystrophy, cone-rod dystrophy or retinitis pigmentosa. Hence, this gene should be promoted to green rating in the next GMS review.",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:55:45.272938Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.63",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: ubap1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:33:29.305793Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.62",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: UBAP1L were changed from Retinitis pigmentosa to Rod-cone dystrophy, HP:0000510; cone-rod dystrophy, MONDO:0015993; retinitis pigmentosa, MONDO:0019200",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:33:13.825902Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.61",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: UBAP1L were set to 28041643",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:32:49.206949Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.60",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBAP1L was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:32:28.565983Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.59",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: UBAP1L.\nTag Q1_24_NHS_review tag was added to gene: UBAP1L.",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:31:39.821942Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.59",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: UBAP1L: Changed phenotypes to: Rod-cone dystrophy, HP:0000510, cone-rod dystrophy, MONDO:0015993, retinitis pigmentosa, MONDO:0019200",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T19:28:47.176411Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.59",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rod-cone dystrophy, HP:0000510, cone-rod dystrophy, MONDO:0015993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:53:50.215193Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.59",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RAX2 were set to ",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:53:26.763385Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.58",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.; to: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:52:49.762292Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.58",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:52:49.737563Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.58",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:51:16.607844Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.57",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: RAX2 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Macular Degeneration; Eye Disorders; Cone-Rod Dystrophy, Dominant; Cone-rod dystrophy 11 to Cone-rod dystrophy 11, OMIM:610381; Retinitis pigmentosa 95, OMIM:620102; ?Macular degeneration, age-related, 6, OMIM:613757",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:49:05.954001Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.56",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_24_MOI tag was added to gene: RAX2.",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-05T18:48:45.539056Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.56",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30377383, 30607024; Phenotypes: Cone-rod dystrophy 11, OMIM:610381, Retinitis pigmentosa 95, OMIM:620102, ?Macular degeneration, age-related, 6, OMIM:613757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2024-02-01T16:52:57.991648Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.56",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: UBAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38293907, PMID: 28041643; Phenotypes: Rod-cone dystrophy, cone-rod dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-01-31T17:54:21.349901Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.56",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: LRRC32 was added\ngene: LRRC32 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC32 were set to PMID: 30976112; PMID: 35656379\nPhenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay\nReview for gene: LRRC32 was set to AMBER\nAdded comment: PMID: 30976112 - homozygous founder variant (p.R544X) identified in two consanguineous families of Palestinian descent - sister and brother, and an unrelated boy. All with cleft palate, proliferative retinopathy, and developmental delay. Segregated with disease in both families.\r\nPMID: 35656379 - rare homozygous missense in a patient who presented with cleft palate, prenatal and postnatal severe growth retardation, global developmental delay, dysmorphic facial features and progressive vitreoretinopathy \nSources: Literature",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2024-01-23T14:09:40.517060Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.56",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: MIR204 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:54:17.945204Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.55",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: TTC21B as Amber List (moderate evidence)",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:54:17.932323Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.55",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:54:07.101466Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.54",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TTC21B were changed from Eye Disorders to Retinal dystrophy, HP:0000556",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:53:58.238411Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.53",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: TTC21B were set to 21068128; 33599192",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:53:56.968745Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.52",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: TTC21B were set to ",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:53:47.584513Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.51",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:53:33.192208Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.50",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy, HP:0000556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2024-01-03T15:15:27.843904Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: VWA8.",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2024-01-03T15:13:40.335624Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: VWA8 as Amber List (moderate evidence)",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2024-01-03T15:13:40.330363Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Hannah Knight. A single family (PMID: 37012052) with 11 individuals all presenting initial symptoms of visual defects which later progressed to macular changes, including macular degeneration and dystrophy. Two variants (c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter)) on the same allele of the VWA8 gene were found to segregate with disease. Expression studies showed reduced protein expression. Zebrafish knockdown model displayed a similar phenotype to that of humans.\r\n\r\nAlthough there is only one family reported to date, multi-generational segregation with disease and concordant phenotype in a knockdown zebrafish model supports pathogenicity and therefore rating Amber with a 'watchlist' tag.",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2024-01-03T15:13:40.300129Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: vwa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2024-01-03T14:54:36.398476Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: VWA8 were changed from ?Retinitis pigmentosa 97 to ?Retinitis pigmentosa 97, OMIM:620422",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-12-28T12:17:18.277753Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.48",
"user_name": "Nour Elkhateeb",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21068128, 33599192; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2023-12-19T18:00:15.891559Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: MVK.\nTag Q4_23_NHS_review tag was added to gene: MVK.",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:59:34.609048Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MVK as Amber List (moderate evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:59:34.605285Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:59:34.573359Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.48",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: mvk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:58:03.419624Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.47",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; retinitis pigmentosa, MONDO:0019200",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:57:08.573278Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.46",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: MVK: Changed phenotypes to: retinitis pigmentosa, MONDO:0019200",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:54:12.374722Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.46",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MVK were set to 24084495",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:52:59.138568Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-12T07:12:49.828783Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35916082; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:01:28.500912Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_23_promote_green was removed from gene: RPE65.\nTag Q4_23_MOI tag was added to gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-08T16:01:10.903427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_MOI was removed from gene: RPE65.\nTag Q4_23_promote_green tag was added to gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:06:42.202941Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Leber congenital amaurosis 2, OMIM:204100 (AR); Retinitis pigmentosa 20, OMIM:613794 (AR); Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD)",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:05:20.310511Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RPE65 were set to ",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T15:52:53.093596Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_23_MOI tag was added to gene: RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T15:52:37.267693Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Biallelic variants cause retinitis pigmentosa and leber congenital amaurosis. Heterozygous variants have also been found in at least 4 unrelated families with choroid/retinal atrophy that mimics certain aspects of choroideremia (PMIDs: 21654732; 27307694; 29947567).\r\n\r\nThis supports a change in MOI from biallelic to both mono- and biallelic at the next GMS panel update.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-12-07T15:52:37.208308Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPE65 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-11-23T12:30:10.339728Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NRL were changed from Retinal degeneration, autosomal recessive, clumped pigment type (AR); Retinitis pigmentosa 27 (AD); Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 27, 613750 to Retinal degeneration, autosomal recessive, clumped pigment type (AR); Retinitis pigmentosa 27, OMIM:613750",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2023-11-16T16:21:18.852643Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.41",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: VWA8 was added\ngene: VWA8 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VWA8 were set to 37012052\nPhenotypes for gene: VWA8 were set to ?Retinitis pigmentosa 97\nReview for gene: VWA8 was set to AMBER\nAdded comment: PMID: 37012052 (2023) identified VWA8 as a novel cause of adRP in a four generation family with 11 affected family members.\r\n6 of the affected members appear to have been tested and confirmed to carry the variant, while 5 unaffected members appear to have been confirmed NOT to \nSources: Literature",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2023-11-07T15:37:27.884239Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: CFAP20.",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-11-07T15:37:14.649268Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CFAP20 as Amber List (moderate evidence)",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-11-07T15:37:14.645331Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene has been given an Amber rating; however, this gene should be promoted to Green at the next GMS review.",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-11-07T15:37:14.619090Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cfap20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-11-07T14:47:11.059265Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175 to Familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, OMIM:617175",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2023-11-07T14:36:27.647527Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RP1L1 were changed from Occult Macular Dystrophy; Occult macular dystrophy, 613587 to Occult macular dystrophy, OMIM:613587 (AD); Retinitis pigmentosa 88, OMIM:618826 (AR)",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2023-10-21T06:58:43.886229Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP20 was added\ngene: CFAP20 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP20 were set to 36329026\nPhenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)\nReview for gene: CFAP20 was set to GREEN\nAdded comment: Describe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin. \r\n\r\nFamily 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate.\r\nFamily 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5)\r\nFamily 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly).\r\nFamily 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys)\r\n\r\nFor all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old). \r\n\r\nUsed HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues. \r\n\r\nCFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development. \nSources: Literature",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-18T11:31:33.470651Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.",
"entity_name": "MT-ND6",
"entity_type": "gene"
},
{
"created": "2023-10-18T11:21:34.251555Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2023-10-18T11:10:53.415672Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2023-10-18T10:53:05.471895Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-10-14T09:14:25.622618Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CTNND1 as Amber List (moderate evidence)",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2023-10-14T09:14:25.617714Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene to familial exudative vitreoretinopathy. Hence, this gene can be promoted to green rating in the next GMS update.",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2023-10-14T09:14:25.592130Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.36",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2023-10-14T09:12:23.095604Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.35",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: CTNND1.",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2023-10-14T09:12:11.422283Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.35",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: CTNND1 was added\ngene: CTNND1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNND1 were set to 35700046\nPhenotypes for gene: CTNND1 were set to exudative vitreoretinopathy, MONDO:0019516\nReview for gene: CTNND1 was set to GREEN\nAdded comment: Of 140 probands of familial exudative vitreoretinopathy (FEVR) families that had whole exome sequencing, three patients were reported with three different heterozygous variants in CTNND1 gene. In addition, inducible deletion of Ctnnd1 in the postnatal mouse endothelial cells (ECs) exhibited typical phenotypes of FEVR with reactive gliosis.\r\n\r\nThis gene has not yet been associated with this FEVR phenotype either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:34:48.706128Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: SGSH.\nTag Q2_23_NHS_review was removed from gene: SGSH.",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:33:35.593196Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_22_MOI was removed from gene: PDSS1.\nTag Q4_22_promote_green was removed from gene: PDSS1.",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:32:44.606859Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: LAMP2.\nTag Q2_23_NHS_review was removed from gene: LAMP2.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:29:56.541008Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_22_MOI was removed from gene: COQ2.\nTag Q4_22_promote_green was removed from gene: COQ2.",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:28:44.501561Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q4_22_MOI was removed from gene: AIPL1.",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:23:17.830158Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SGSH: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:23:17.809828Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:23:17.778149Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: LAMP2: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:23:17.753086Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:23:17.717526Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: AIPL1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:21:44.791501Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to SGSH.\nSource NHS GMS was added to SGSH.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:21:44.541445Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to PDSS1.\nSource NHS GMS was added to PDSS1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:21:44.350864Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to LAMP2.\nSource NHS GMS was added to LAMP2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:21:44.088370Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to COQ2.\nSource NHS GMS was added to COQ2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-10T10:21:43.769500Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:58:22.854363Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag locus-type-rna-micro tag was added to gene: MIR204.\nTag Q3_23_NHS_review tag was added to gene: MIR204.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:52:51.872612Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: NBAS: Added comment: Based on the evidence cited by Siying Lin (Moorfields Eye Hospital)(PMIDs: 20577004, 28115293, 36479642, 34110364) and the case found in their clinical practice; cone dysfunction is a feature of the ocular phenotype associated with biallelic NBAS variants.; Changed rating: GREEN",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:44:19.041220Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.32",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:44:11.180183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: NBAS as Amber List (moderate evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:44:11.175685Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:44:11.106923Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.31",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: nbas has been classified as Amber List (Moderate Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:43:49.094960Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: NBAS.\nTag Q3_23_NHS_review tag was added to gene: NBAS.",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:39:33.293972Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.30",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800; short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-29T11:37:36.452620Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.29",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: NBAS were set to ",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:16:07.512425Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:16:07.492747Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.28",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:15:09.097464Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: MIR204 as Amber List (moderate evidence)",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:15:09.091960Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:15:09.062248Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.27",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:14:56.278187Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: MIR204.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T17:13:18.307237Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T16:34:58.437274Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: MIR204 were changed from to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-28T16:33:27.979452Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.25",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: MIR204 were set to ",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-20T14:18:36.491449Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 20577004, 28115293, 36479642, 34110364; Phenotypes: Optic atrophy, Cone dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-09-18T10:17:53.670281Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 26056285, 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-09-12T16:27:14.219513Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.",
"entity_name": "MT-ND6",
"entity_type": "gene"
},
{
"created": "2023-09-12T16:06:07.345583Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2023-09-12T14:25:53.500935Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2023-09-12T10:34:29.878734Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-08-15T14:28:51.481207Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2023-08-15T13:55:49.463872Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.24",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ALPK1 were set to 30967659; 31939038; 31053777; 34159509",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:51:45.000546Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: MPDZ.\nTag Q3_23_NHS_review tag was added to gene: MPDZ.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:50:56.849697Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MPDZ as Amber List (moderate evidence)",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:50:56.835025Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are five unrelated cases and supporting functional evidence available for the association of this gene with this panel and hence this gene can be promoted to green rating at the next GMS review.",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:50:56.764882Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:45:58.437082Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:45:46.059031Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-08-04T19:44:50.478236Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 36429029, 36594712; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T18:44:52.622281Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "changed review comment from: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia\r\nPMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas\r\nPMID 36429029: proband with biallelic MPDZ variants and macular coloboma \nSources: Literature; to: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia\r\nPMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas\r\nPMID 36429029: proband with biallelic MPDZ variants and macular coloboma \r\nSources: Literature",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T18:44:36.632299Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029\nMode of pathogenicity for gene: MPDZ was set to Other\nAdded comment: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia\r\nPMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas\r\nPMID 36429029: proband with biallelic MPDZ variants and macular coloboma \nSources: Literature",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:08:22.151747Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: DYNC2H1.",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:07:47.563451Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: DYNC2H1 as Amber List (moderate evidence)",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:07:47.560350Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence (five unrelated cases) in support of the association of this gene with inherited retinal disease. Hence, this gene can be promoted to green rating in the next GMS review.",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:07:47.538444Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:05:56.687910Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from to retinitis pigmentosa, MONDO:0019200",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:05:46.486636Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T14:05:24.208777Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32753734; Phenotypes: retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-07-28T06:08:41.394092Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest tetinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).\r\n\r\nThe following are some of the reported cases:\r\nPMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.\r\nPMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.\r\nPMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction.\r\n\r\nThis gene has also been associated with relevant phenotypes both in OMIM (MIM #252650) and DD and eye panels of Gene2Phenotype (with 'definitive' rating). The ophthalmological manifestations including corneal clouding, progressive retinal degeneration and optic atrophy has been reported as part of the OMIM phenotype.; to: Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).\r\n\r\nThe following are some of the reported cases:\r\nPMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.\r\nPMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.\r\nPMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction.\r\n\r\nThis gene has also been associated with relevant phenotypes both in OMIM (MIM #252650) and DD and eye panels of Gene2Phenotype (with 'definitive' rating). The ophthalmological manifestations including corneal clouding, progressive retinal degeneration and optic atrophy has been reported as part of the OMIM phenotype.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-28T05:58:29.842099Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: MCOLN1 as Amber List (moderate evidence)",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-28T05:58:29.839413Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence for this gene to be added with a green rating in this panel as patients with MCOLN1-associated mucolipidosis IV present with a limited ocular phenotype including retinal dystrophy.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-28T05:58:29.825380Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-28T05:55:37.225094Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: MCOLN1 were set to 17239335; 1488220; 18326692",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-28T05:55:00.507278Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: MCOLN1.",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-28T05:54:47.838508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17239335, 25156245, 33965501, 35205297; Phenotypes: Mucolipidosis IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:14:59.138391Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.; to: Comment on list classification: As reviewed by Siying Lin, there are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:14:29.411145Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: PYGM.\nTag Q3_23_NHS_review tag was added to gene: PYGM.",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:14:11.564009Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: PYGM as Amber List (moderate evidence)",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:14:11.561125Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are four unrelated cases in support of the association of this gene to retinal disorders. Hence, this gene can be rated green in the next major update.",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:14:11.547008Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: pygm has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:13:11.425852Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: PYGM were changed from Macular dystrophy, retinopathy to macular dystrophy, retinal, MONDO:0031166",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:12:41.347113Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: PYGM were set to PMID 30316539",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-27T20:12:24.648729Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30316539; Phenotypes: macular dystrophy, retinal, MONDO:0031166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-24T16:43:38.224717Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.12",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "gene: PYGM was added\ngene: PYGM was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYGM were set to PMID 30316539\nPhenotypes for gene: PYGM were set to Macular dystrophy, retinopathy\nMode of pathogenicity for gene: PYGM was set to Other\nReview for gene: PYGM was set to GREEN\nAdded comment: Mahroo et al (PMID 30316539) report on 4 individuals with McArdle disease and biallelic variants in PYGM and similar retinopathy affecting the macula. Screening results for mutations in a number of macular dystrophy genes were negative, supporting the association of this retinopathy with McArdle disease \nSources: Literature",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2023-07-03T16:53:59.296696Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.12",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCOLN1 were set to 17239335; 1488220; 18326692\nMode of pathogenicity for gene: MCOLN1 was set to Other\nReview for gene: MCOLN1 was set to GREEN\nAdded comment: Retinal degeneration is a known feature of MCOLN1-associated mucolipidosis IV, and there are reports of patients presenting with a limited ocular phenotype including retinal dystrophy \nSources: Literature",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-05-30T15:39:52.771000Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2023-05-30T15:02:46.278292Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: IDH3A were set to 28412069; 30478029",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2023-05-30T15:01:24.780917Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: IDH3A were changed from Retinitis Pigmentosa; Pseudocoloboma to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:08:31.266315Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_NHS_review tag was added to gene: LAMP2.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:06:19.286788Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: LAMP2.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:05:55.140598Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: LAMP2 were changed from Pigmentary retinopathy to Pigmentary retinopathy; Danon disease, OMIM:300257",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:05:38.411132Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: LAMP2 were set to (PMID: 16751040; 32533651; 36288619; 22290069; 32890081; 26398689)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:05:16.344294Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: LAMP2 as Amber List (moderate evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:05:16.339949Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Siying Lin (Moorfields Eye Hospital), there is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:05:16.312831Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-15T18:04:18.155378Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16751040, 22290069, 26398689, 32533651, 32890081, 36288619; Phenotypes: Danon disease, OMIM:300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-05-08T22:39:19.484826Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.7",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: LAMP2 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: LAMP2 were set to (PMID: 16751040; 32533651; 36288619; 22290069; 32890081; 26398689)\nPhenotypes for gene: LAMP2 were set to Pigmentary retinopathy\nMode of pathogenicity for gene: LAMP2 was set to Other\nReview for gene: LAMP2 was set to GREEN\nAdded comment: Several reports in literature identifying pigmentary retinopathy as part of the phenotypic spectrum in patients with Danon disease (female carriers less severely affected) \nSources: Literature",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-04-11T13:49:40.816542Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SPG7 as Amber List (moderate evidence)",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T13:49:40.809355Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T13:47:25.413978Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T13:08:28.988891Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-11T09:39:07.405735Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:55:21.414322Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).; to: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four unrelated cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:54:57.362341Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SGSH as Amber List (moderate evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:54:57.359700Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:54:57.345209Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:53:30.222593Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from to Retinal dystrophy, HP:0000556; retinitis pigmentosa, MONDO:0019200",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:53:16.139945Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to PMID 31718697",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:52:56.006074Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: SGSH: Changed publications to: 31718697, 32195255",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:52:19.300226Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: SGSH.\nTag Q2_23_NHS_review tag was added to gene: SGSH.",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:51:55.485467Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:31718697 reported that patients from three unrelated families with Mucopolysaccharidosis type III (MPS-III) presented with retinal dystrophy and another unrelated patient was presented with retinitis pigmentosa. They were identified with compound heterozygous variants in SGSH gene. \r\n\r\nIn addition, MPS-IIIA mice exhibited a progressive retinal dystrophy characterized by significant alterations in visual function (PMID:32195255).\r\n\r\nAlthough SGSH gene has already been associated with MPS-IIIA in both OMIM and Gene2Phenotype, retinal phenotypes have not yet been included in these records.; to: PMID:31718697 reported that patients from three unrelated families with Mucopolysaccharidosis type III (MPS-III) presented with retinal dystrophy and another unrelated patient was presented with retinitis pigmentosa. They were identified with compound heterozygous variants in SGSH gene. \r\n\r\nSiying Lin (Moorfields Eye Hospital) also reviewed about two additional cases of retinal dystrophy identified with biallelic SGSH variants in their patient cohort.\r\n\r\nIn addition, MPS-IIIA mice exhibited a progressive retinal dystrophy characterized by significant alterations in visual function (PMID:32195255).\r\n\r\nAlthough SGSH gene has already been associated with MPS-IIIA in both OMIM and Gene2Phenotype, retinal phenotypes have not yet been included in these records.",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-04-05T13:49:46.173277Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31718697; Phenotypes: Retinal dystrophy, HP:0000556, retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-03-22T15:35:37.152472Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 4.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T15:34:26.946724Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 4.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T12:34:08.735004Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.34",
"user_name": "Siying Lin",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGSH were set to PMID 31718697\nMode of pathogenicity for gene: SGSH was set to Other\nReview for gene: SGSH was set to GREEN\nAdded comment: Reports of late onset retinal dystrophy with mild systemic involvement (attenuated MPS phenotype) associated with biallelic genotypes which include likely hypomorphic alleles. Also two individuals identified in our clinical cohort with retinal dystrophy associated with biallelic SGSH variants. \nSources: Literature",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-03-07T18:09:16.560048Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene has now been associated with phenotype in OMIM (MIM #126600) and in Gene2Phenotype.",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2023-03-07T18:09:16.534611Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.34",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: EFEMP1 were changed from Macular Dystrophy/Degeneration/Stargardt Disease; Inherited macular dystrophy (Doyne/dominant drusen) to Doyne honeycomb degeneration of retina, OMIM:126600",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2023-02-16T14:40:13.160149Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.33",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: PDE6B were set to ",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2023-02-10T11:02:40.828859Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.32",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:34726245 reports functional studies from mouse model in support of the association of this gene to retinal abnormalities.",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2023-02-10T11:02:40.809357Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.32",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: CWC27 were set to 28285769",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:14:27.312826Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).; to: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).\r\n\r\nIn addition, a review of the database of patients with inherited retinal disease at Moorfields Eye Hospital London and The Hospital for Sick Children Toronto identified 17 patients with confirmed biallelic mutations in RDH5. Of these, seven patients (from six families) had macular atrophy evident on SD-OCT and/or fundus autofluorescence imaging.",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:11:52.867995Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on publications: A domestic cat model with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val) has been described in PMID:34726233 and the affected cats have a marked delay in recovery of dark adaptation and develop a degeneration of the area centralis (human equivalent is macula).",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2023-02-10T10:11:52.819111Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: RDH5 were set to 21529959",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2023-02-10T09:53:50.844009Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23221069, 31960170, 34535971, 34652420; Phenotypes: Retinal cone dystrophy 3B, OMIM:610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:21:35.885095Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL9A3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:19:40.913397Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:17:11.845722Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COL11A1 as Green List (high evidence)",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:17:11.838079Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:17:03.018796Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE was removed from gene: COL11A1.\nTag Q1_23_promote_green was removed from gene: COL11A1.\nTag Q1_23_expert_review was removed from gene: COL11A1.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:16:38.276210Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COL11A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:16:14.577079Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:15:32.333692Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE was removed from gene: COL9A3.\nTag Q1_23_promote_green was removed from gene: COL9A3.\nTag Q1_23_expert_review was removed from gene: COL9A3.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:15:15.708455Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COL9A3 as Green List (high evidence)",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:15:15.701675Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:14:55.538837Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:14:24.069115Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COL9A3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:13:26.385737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE was removed from gene: COL9A2.\nTag Q1_23_promote_green was removed from gene: COL9A2.\nTag Q1_23_expert_review was removed from gene: COL9A2.",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:13:02.632893Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COL9A2 as Green List (high evidence)",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:13:02.616320Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Green List (High Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:12:32.743180Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:12:28.092302Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COL9A2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:11:26.340417Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE was removed from gene: COL9A1.\nTag Q1_23_promote_green was removed from gene: COL9A1.\nTag Q1_23_expert_review was removed from gene: COL9A1.",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:10:58.083702Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COL9A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:09:41.765895Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COL9A1 as Green List (high evidence)",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:09:41.756562Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:09:20.061198Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-02-06T08:08:10.763704Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-02-02T11:48:47.892852Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: COL2A1.\nTag Q3_22_NHS_review was removed from gene: COL2A1.\nTag Q3_22_expert_review was removed from gene: COL2A1.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:50:22.935305Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: COL9A3.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:48:36.846581Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: COL9A2.",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:47:40.328952Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: COL9A1.",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:46:31.487125Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: COL11A1.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:45:39.631689Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: IRX6.\nTag Q3_21_expert_review was removed from gene: IRX6.",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:45:17.411509Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. GMS reviewers note that it should not be added as gene for SNV calling, but a region for CNV duplication testing would be appropriate, as per Eleanor Williams comment on PanelApp.",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:44:17.952684Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: IRX5.\nTag Q3_21_expert_review was removed from gene: IRX5.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:43:37.221328Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers wonder whether this could be added as a region instead.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers note that it should not be added as gene for SNV calling, but a region for CNV duplication testing would be appropriate, as per Eleanor Williams comment on PanelApp.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:42:18.681416Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. The GMS reviewers wonder whether this could be added as a region instead.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:39:50.557508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: PRPF6.\nTag Q3_22_expert_review was removed from gene: PRPF6.",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:37:03.143814Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green was removed from gene: STN1.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:35:14.646341Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_22_MOI was removed from gene: SSBP1.",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:34:35.200552Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: RNU4ATAC.\nTag Q2_22_NHS_review was removed from gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:33:40.334288Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_22_MOI was removed from gene: PEX6.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:33:04.110730Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: ARSG.\nTag Q2_22_NHS_review was removed from gene: ARSG.",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:32:10.795858Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:31:27.895645Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: ACO2.",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:30:26.791657Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: RGR.\nTag Q3_22_NHS_review was removed from gene: RGR.",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2023-01-30T15:29:31.641750Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_21_NHS_review was removed from gene: POMT1.\nTag Q3_22_rating was removed from gene: POMT1.",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.803902Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL9A3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the rating and mode of inheritance of this gene.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.790986Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL9A2: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.781973Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL9A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.773749Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL2A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.764790Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL11A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.757017Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: IRX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.747610Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: IRX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.735739Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.716231Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: POMGNT2: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.705242Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: STN1: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.697861Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: SSBP1",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.688154Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.678420Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: PEX6",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.668511Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.657805Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: AFG3L2",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.646759Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: ACO2",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.636169Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.624885Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:54.601453Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COL2A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:14.480307Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to STN1.\nSource Expert Review Green was added to STN1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:14.363682Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to SSBP1.\nMode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:14.186978Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to RNU4ATAC.\nSource Expert Review Green was added to RNU4ATAC.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:14.055302Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to RGR.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.918952Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to POMT1.\nSource Expert Review Green was added to POMT1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.773386Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to POMGNT2.",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.642871Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to PEX6.\nMode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.513267Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to COL2A1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.392777Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARSG.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.268208Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-01-30T14:08:13.074079Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2023-01-09T06:39:05.576888Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-09T06:38:46.064481Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: POMGNT2 were set to ",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-09T06:38:27.210643Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-09T06:38:17.626025Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: POMGNT2 as Amber List (moderate evidence)",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-09T06:38:17.617528Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.21",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-09T06:38:03.180454Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958903, 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:16:31.381999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: STN1.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:04:55.806694Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.20",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: STN1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:04:45.466250Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.19",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: STN1 were set to ",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:04:35.053258Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: STN1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:04:27.396900Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: STN1 as Amber List (moderate evidence)",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:04:27.389070Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.17",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: stn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:04:10.065171Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on classification: Four unrelated patients identified with biallelic variants (homozygous or compound heterozygous) have been reported with retinal telangiectasia/ retinal lesions (PMID:27432940, PMID:34110109). hence, this gene can be rated GREEN.; to: Comment on classification: Four unrelated patients identified with biallelic variants (homozygous or compound heterozygous) have been reported with retinal telangiectasia/ retinal lesions (PMID:27432940, PMID:34110109). I would therefore recommend this gene to be rated GREEN at the next GMS review.",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T19:03:00.855019Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27432940, 34110109; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:48:45.439218Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: COL11A1.\nTag Q1_23_expert_review tag was added to gene: COL11A1.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:48:22.771173Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.16",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:48:00.284093Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: COL11A1 were set to ",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:47:50.476562Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:47:32.071448Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: ; Mode of pathogenicity: None; Publications: 10486316, 17318849; Phenotypes: Marshall syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:30:34.025738Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_expert_review tag was added to gene: COL9A3.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:30:25.570730Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: COL9A3.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:30:08.601870Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A3 were changed from to Stickler syndrome, type VI, OMIM:620022",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:29:58.536598Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.12",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: COL9A3 were set to ",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:29:45.552761Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:29:27.857992Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: COL9A3: Changed publications to: 30450842, 33570243, 33633367",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T18:27:08.296889Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL9A3: Rating: ; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Stickler syndrome, type VI, OMIM:620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2023-01-08T12:28:35.404590Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: COL9A2.\nTag Q1_23_expert_review tag was added to gene: COL9A2.",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-01-08T12:27:56.250012Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: COL9A2 were set to ",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-01-08T12:27:35.211502Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: ; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, OMIM:614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2023-01-08T12:02:40.515758Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: COL9A1.\nTag Q1_23_expert_review tag was added to gene: COL9A1.",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T12:00:52.469948Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: COL9A1 were set to ",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-01-08T12:00:25.861132Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: ; Mode of pathogenicity: None; Publications: 16909383, 21421862; Phenotypes: Stickler syndrome, type IV, OMIM:614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2023-01-06T11:18:03.349829Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: There is sufficient evidence linking COL2A1 with retinal disorders (retinal thinning, lattice retinopathy, retinal detachment, vitreoretinal degeneration, blindness etc). However, these phenotypes overlap with that of Stickler syndrome and this gene is green on Stickler syndrome panel. It has previously been decided (2019) in consultation with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) that this gene can stay red in this panel. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.; to: There is sufficient evidence linking COL2A1 with retinal disorders (retinal thinning, lattice retinopathy, retinal detachment, vitreoretinal degeneration, blindness etc). However, these phenotypes overlap with that of Stickler syndrome and this gene is green on Stickler syndrome panel (https://panelapp.genomicsengland.co.uk/panels/3/gene/COL2A1/). It has previously been decided (2019) in consultation with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) that this gene can stay red in this panel. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-06T11:12:27.666262Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.8",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from Eye Disorders to Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450; Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248; Kniest dysplasia, OMIM:156550; SED congenita, OMIM:183900; Stickler syndrome, type I, OMIM:108300; Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-06T11:11:59.333177Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.7",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2023-01-06T11:10:47.314786Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450, Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248, Kniest dysplasia, OMIM:156550, SED congenita, OMIM:183900, Stickler syndrome, type I, OMIM:108300, Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:15.069742Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: POMGNT2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscle Eye Brain disease, Walker Warburg disease, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:15.046667Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: non-syndromic Retinitis Pigmentosa, Walker Warburg syndrome, Muscle-eye-brain disease, dystroglycanopathy, retinal detachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:15.022783Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: STN1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:15.004851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, Marshall syndrome,, beaded vitreous, early onset hearing loss, retinal detachment; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:14.988937Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL9A3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: stickler syndrome, retinal degeneration, retinal detachment; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:14.972446Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler Syndrome, high myopia, retinal detachment,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:14.957333Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler Syndrome, high myopia, retinal detachment, sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:51:14.942408Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: retinal detachment, Stickler syndrome, cleft palate, hearing impairment, cataract,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:50:30.838593Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: POMGNT2 was added\ngene: POMGNT2 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: POMGNT2 was set to ",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:50:30.780590Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: STN1 was added\ngene: STN1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: STN1 was set to ",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2022-12-21T16:50:30.723549Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: COL9A3 was set to ",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:35:10.852873Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EYS were changed from Retinitis pigmentosa 25; Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 25, 602772 to Retinitis pigmentosa 25, OMIM:602772",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:34:58.337348Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: EYS were set to ",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2022-12-12T17:51:12.849858Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: NPHP1 were set to ",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-12-12T17:50:47.945757Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: ; Mode of pathogenicity: None; Publications: 34415307; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:58:46.613658Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:57:44.149995Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "3.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-22T15:11:06.260464Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.301",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_22_MOI tag was added to gene: AIPL1.",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:09:27.047192Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.301",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: AIPL1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:09:10.115825Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.301",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous phenotypes (overwritten): Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy (AD); Leber congenital amaurosis 4 (AR); Retinitis pigmentosa, juvenile (AD); Leber Congenital Amaurosis; Leber congenital amaurosis; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:09:10.080848Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.301",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AIPL1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy (AD); Leber congenital amaurosis 4 (AR); Retinitis pigmentosa, juvenile (AD); Leber Congenital Amaurosis; Leber congenital amaurosis; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Cone-rod dystrophy, OMIM:604393; Retinitis pigmentosa, juvenile, OMIM:604393; Leber congenital amaurosis 4, OMIM:604393",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:07:54.500621Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.300",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AIPL1 were set to ",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:04:25.995867Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI should be updated from 'biallelic' to 'both mono- and biallelic (but biallelic mutations cause a more SEVERE disease form) at the next GMS panel update. \r\n\r\nThis gene is typically associated with recessive inheritance of a Leber congenital amaurosis (LCA) phenotype. However, some patients with heterozygous variants have also been identified, usually presenting less severe phenotypes within the retinal dystrophy spectrum such as retinitis pigmentosa and rod-cone dystrophy/dysfunction - although heterozygous variants act with reduced penetrance (PMID: 10873396; 15249368; 21900377; 33067476)\r\n\r\nBoth MOIs are also listed in OMIM.",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:04:25.978350Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.299",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2022-11-14T14:52:49.156468Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.298",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNGB3 were changed from Achromatopsia; Macular degeneration, juvenile; Achromatopsia-3, 262300; Macular degeneration, juvenile, 248200 -3; Stargardt Disease, Recessive; Macular Dystrophy/Degeneration/Stargardt Disease; Achromatopsia-3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia 3, OMIM:262300; Macular degeneration, juvenile",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2022-11-07T11:26:03.243979Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.297",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNB1 were changed from Exudative vitreoretinopathy 7\t617572 to Exudative vitreoretinopathy 7, OMIM:617572",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-11-03T11:49:56.111753Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.296",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79, OMIM:617460; retinitis pigmentosa 79,MONDO:0044320 to Retinitis pigmentosa 79, OMIM:617460; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-02T14:53:20.618435Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.295",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Only found evidence of infraclinical lesions of retinal lipofuscinosis detected in heterozygous carriers (PMID: 28404863) and therefore the MOI of 'biallelic' on this panel is correct.",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2022-11-02T14:53:20.568981Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.295",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2022-10-25T14:30:17.894458Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.294",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FBLN5 were changed from Macular Degeneration to Macular degeneration, age-related, 3, OMIM:608895; Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:18:19.434483Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.293",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: COQ5 as Amber List (moderate evidence)",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:18:19.429497Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.293",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated amber.",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:18:19.404769Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.293",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: coq5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:17:20.312056Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.292",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: COQ5 was added\ngene: COQ5 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ5 were set to 36266294\nPhenotypes for gene: COQ5 were set to ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028; coenzyme q10 deficiency, primary, 9, MONDO:0033615\nReview for gene: COQ5 was set to AMBER\nAdded comment: Associated with Coenzyme Q10 deficiency, primary, 9, OMIM:619028 and as limited Gen2Phen gene for this condition. PMID: 36266294 reports three variants in two unrelated cases with retinitis pigmentosa. \nSources: Literature",
"entity_name": "COQ5",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:06:54.288358Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.291",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: COQ4 was added\ngene: COQ4 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ4 were set to 36266294\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, OMIM:616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562\nReview for gene: COQ4 was set to RED\nAdded comment: Associated with Coenzyme Q10 deficiency, primary, 7, OMIM:616276 and as strong Gen2Phen gene for this condition. PMID: 36266294 reports two variants in a case with retinitis pigmentosa. \nSources: Literature",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:02:29.472649Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.290",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: COQ2 as Amber List (moderate evidence)",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:02:29.468839Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.290",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2022-10-25T11:02:29.446959Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.290",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:59:45.404070Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.289",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: COQ2 was added\ngene: COQ2 was added to Retinal disorders. Sources: Literature\nQ4_22_MOI, Q4_22_promote_green tags were added to gene: COQ2.\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ2 were set to 36266294\nPhenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, OMIM:607426; coenzyme Q10 deficiency, primary, 1, MONDO:0011829\nReview for gene: COQ2 was set to GREEN\nAdded comment: Associated with Coenzyme Q10 deficiency, primary, 1, OMIM:607426 and as definitive Gen2Phen gene for this condition. PMID: 36266294 reports four variants in three unrelated cases with retinitis pigmentosa. \nSources: Literature",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:46:43.853442Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.288",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: PDSS1 as Amber List (moderate evidence)",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:46:43.850442Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.288",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:46:43.834572Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.288",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:46:24.356866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.287",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: PDSS1 was added\ngene: PDSS1 was added to Retinal disorders. Sources: Literature\nQ4_22_MOI, Q4_22_promote_green tags were added to gene: PDSS1.\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDSS1 were set to 36266294\nPhenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, OMIM:614651; deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837\nReview for gene: PDSS1 was set to GREEN\nAdded comment: Associated with Coenzyme Q10 deficiency, primary, 2, OMIM:614651 and as strong Gen2Phen gene for this condition. PMID: 36266294 reports nine variants in six unrelated cases with retinitis pigmentosa. \nSources: Literature",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:29:47.427757Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: PRPF6",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:29:27.117380Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_expert_review was removed from gene: PRPF6.\nTag Q3_22_rating tag was added to gene: PRPF6.\nTag Q3_22_expert_review tag was added to gene: PRPF6.",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-09-28T17:42:06.265301Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.286",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320 to Retinitis pigmentosa 79, OMIM:617460; retinitis pigmentosa 79,MONDO:0044320",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:12:11.141990Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.285",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: COL2A1.\nTag Q3_22_NHS_review tag was added to gene: COL2A1.\nTag Q3_22_expert_review tag was added to gene: COL2A1.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:11:37.825294Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.285",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: COL2A1 were set to ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:10:02.170941Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.284",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: RGR.\nTag Q3_22_NHS_review tag was added to gene: RGR.",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:09:48.339201Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.284",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: RGR: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review from Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) this gene should be promoted from Amber to Green.",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:09:02.876910Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.284",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI has been changed from \"Both\" to \"Monoallelic\" only based on expert review.",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:09:02.856029Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.284",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: RGR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:08:23.959649Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.283",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RGR were changed from Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa; Retinitis pigmentosa 44, 613769 to Retinitis pigmentosa 44, OMIM:613769; Retinitis pigmentosa 44, MONDO:0013414",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:07:30.686567Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.282",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PRPF6 were changed from Retinitis pigmentosa 60; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 60, 613983 to Retinitis pigmentosa 60, OMIM:613983; retinitis pigmentosa 60, MONDO:0013516",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:03:43.738820Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.281",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_expert_review tag was added to gene: PRPF6.",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:03:17.366441Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.281",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PRPF6: Rating: ; Mode of pathogenicity: None; Publications: 31456290; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-07-28T15:01:48.981958Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.281",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PRPF6 were set to ",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:44:43.056546Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.280",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_NHS_review tag was added to gene: POMT1.\nTag Q3_22_rating tag was added to gene: POMT1.",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:44:13.762378Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.280",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: POMT1 as Amber List (moderate evidence)",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:44:13.758753Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.280",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Robert Henderson (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review this gene should be promoted to Green.",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:44:13.737320Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.280",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:43:33.705336Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.279",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI for this gene has been changed from Monoallelic to Biallelic as this is the correct MOI.",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:43:33.685091Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.279",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:40:36.634086Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.278",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from retinal detachment to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-28T14:39:04.600749Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.277",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-07-14T10:22:24.792426Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.276",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "edited their review of gene: RGR: Added comment: The evidence for dominant disease is sufficient I think, the late frameshift is seen in several families now. There is no current data to support recessive disease; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2022-07-13T14:49:07.670382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.276",
"user_name": "Robert Henderson",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32867104, 9091360, 30130436; Phenotypes: Stickler syndrome, retinal detachment, cortical cataract, congenital myopia, vitreous abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-06-21T14:50:53.005723Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.276",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: C2 were changed from Macular Degeneration to {Macular degeneration, age-related, 14, reduced risk of}, OMIM:615489",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-06-15T16:23:24.595393Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.275",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35; Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; Sorsby retinal dystrophy; Doyne retinal dystrophy; R32",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-06-09T13:19:31.319123Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.274",
"user_name": "Robert Henderson",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: POMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026\nPhenotypes for gene: POMT1 were set to retinal detachment\nPenetrance for gene: POMT1 were set to unknown\nReview for gene: POMT1 was set to GREEN\nAdded comment: This is currently included on numerous panels but not on the retina/posterior segment panel. It would merit inclusion on an inherited vitreoretinopathy slice. \nSources: Expert list",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-05-26T13:36:27.985836Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.274",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: ACO2.",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-05-26T13:26:35.575248Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.274",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.\r\nTom Cullup (Great Ormond Street Hospital), 17 Feb 2022",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-05-26T13:24:03.708596Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.274",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-05-26T13:21:43.127677Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.274",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ACO2 were set to ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-05-26T07:28:16.527172Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.273",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Mohammed Derar (University of Leeds). This gene is associated with a disease in OMIM and Gene2Phenotype. \r\n\r\nPMID: 35157951 found patients with FRMD7 variants had grade 1 foveal hypoplasia or normal foveal morphology. \r\n\r\nPMID: 30025138 did not perform any tests to look at foveal hypoplasia. \r\n\r\nPMID: 33531592 showed a an FRMD7 variant in one sibling (proband) of a dizygotic twin pair. The other sibling is unaffected. The family reported nystagmus in another male sibling and the maternal grandfather; however, it is unclear whether these two individuals were also tested for FRMD7 variant. The proband had foveal hypoplasia. As it does not appear all patients with variants \r\n\r\nPMID: 30015830 identified causative variants in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. Retinal OCT was conducted and was found to be normal.\r\n\r\nAs foveal hypoplasia does not appear to affect all individuals with FRMD7 variants, this gene has been referred to NHS GMS working group to determine if this gene is appropriate for this panel.; to: Comment on list classification: New gene added by Mohammed Derar (University of Leeds). This gene is associated with a disease in OMIM and Gene2Phenotype. \r\n\r\nPMID: 35157951 found patients with FRMD7 variants had grade 1 foveal hypoplasia or normal foveal morphology. \r\n\r\nPMID: 30025138 did not perform any tests to look at foveal hypoplasia. \r\n\r\nPMID: 33531592 showed a an FRMD7 variant in one sibling (proband) of a dizygotic twin pair. The other sibling is unaffected. The family reported nystagmus in another male sibling and the maternal grandfather; however, it is unclear whether these two individuals were also tested for FRMD7 variant. The proband had foveal hypoplasia. As it does not appear all patients with variants \r\n\r\nPMID: 30015830 identified causative variants in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. Retinal OCT was conducted and was found to be normal.\r\n\r\nNystagmus is the presenting feature and foveal hypoplasia does not appear to affect all individuals with FRMD7 variants. This gene is already Green on the \"Albinism or congenital nystagmus\" (version 1.23) panel; therefore, this gene will remain as Amber for now.",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-26T07:26:19.980931Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.273",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: FRMD7.\nTag Q2_22_expert_review was removed from gene: FRMD7.\nTag Q2_22_NHS_review was removed from gene: FRMD7.",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T22:21:42.056494Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.273",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: AHR were set to 29726989; 31896775",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2022-05-25T22:21:15.601013Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.272",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: AHR",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:18:54.894689Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.272",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: SLC38A8: Green review from Mohammed Derar on green gene so no change in rating needed. Phenotypes updated.",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:17:56.278689Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.272",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; chiasmal misrouting",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:59:38.193011Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.271",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:29:28.513985Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.271",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FRMD7 were changed from Infantile nystagmus; foveal hypoplasia to Nystagmus 1, congenital, X-linked, OMIM:310700; Nystagmus, infantile periodic alternating, X-linked, OMIM:310700; foveal hypoplasia, MONDO:0044203",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:28:16.183910Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.270",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FRMD7 were set to 30025138; 24688117",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:27:34.229739Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.269",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FRMD7 as Amber List (moderate evidence)",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:27:34.226734Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.269",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Mohammed Derar (University of Leeds). This gene is associated with a disease in OMIM and Gene2Phenotype. \r\n\r\nPMID: 35157951 found patients with FRMD7 variants had grade 1 foveal hypoplasia or normal foveal morphology. \r\n\r\nPMID: 30025138 did not perform any tests to look at foveal hypoplasia. \r\n\r\nPMID: 33531592 showed a an FRMD7 variant in one sibling (proband) of a dizygotic twin pair. The other sibling is unaffected. The family reported nystagmus in another male sibling and the maternal grandfather; however, it is unclear whether these two individuals were also tested for FRMD7 variant. The proband had foveal hypoplasia. As it does not appear all patients with variants \r\n\r\nPMID: 30015830 identified causative variants in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. Retinal OCT was conducted and was found to be normal.\r\n\r\nAs foveal hypoplasia does not appear to affect all individuals with FRMD7 variants, this gene has been referred to NHS GMS working group to determine if this gene is appropriate for this panel.",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:27:34.204412Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.269",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: frmd7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:08:34.514251Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.268",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: FRMD7.",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T09:08:08.967500Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.268",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_22_expert_review tag was added to gene: FRMD7.\nTag Q2_22_NHS_review tag was added to gene: FRMD7.",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-25T08:53:01.322175Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.268",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FRMD7 were set to Choi et al. (2018) (PMID: 30025138); Thomas et al. (2014) (PMID:24688117)",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-05-24T16:01:58.115870Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.267",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: RNU4ATAC: Added comment: Associated with relevant phenotypes in OMIM and as definitive Gen2Phen gene for Microcephalic osteodysplastic primordial dwarfism, type I (OMIM:210710) which sometimes includes features of Lowry-Wood syndrome (OMIM:226960) and Roifman syndrome (OMIM:616651) making it relevant to this ophthalimic panel. At least six variants have been reported in at least three cases of Lowry-Wood syndrome (OMIM:226960) and at least six variants have been reported in at least three cases of Roifman syndrome (OMIM:616651). \r\nHannah Knight (Moorfields Eye Hospital) has also reported two further variants in a case of Lowry-Wood syndrome (OMIM:226960) where the patient shows retinal dystrophy.; Changed rating: GREEN",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:35:58.142911Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.267",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: RNU4ATAC.\nTag Q2_22_NHS_review tag was added to gene: RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:35:14.099775Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.267",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: RNU4ATAC as Amber List (moderate evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:35:14.096096Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.267",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:35:14.067166Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.267",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:34:32.625794Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.266",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:34:18.237001Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.265",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:24:03.325955Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.264",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CTNNA1 were set to 26691986; 33497368",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:20:38.125420Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.263",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least six variants have been reported in at least five unrelated cases of Usher syndrome, type IV (OMIM:618144).; Changed rating: GREEN",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:16:59.636354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.263",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ARSG as Amber List (moderate evidence)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:16:59.633517Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.263",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:16:59.612332Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.263",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: arsg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:16:48.293876Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.262",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: ARSG.\nTag Q2_22_NHS_review tag was added to gene: ARSG.",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:13:29.159458Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.262",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: ARSG were set to ",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T15:00:46.504330Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.261",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: ARSG were changed from to Usher syndrome, type IV, OMIM:618144",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-24T14:59:32.452713Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.260",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSG was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:38:18.337017Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.259",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:03:06.616068Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.258",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: C8orf37",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:59:13.488687Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.258",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C8orf37.",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:01:46.616354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.258",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: USP45.",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2022-05-08T17:48:14.029571Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.258",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TMEM218.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:33:03.114088Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.258",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Optic atrophy 12, OMIM:618977, MONDO:0033549 to Optic atrophy 12, OMIM:618977, MONDO:0033549; Spastic ataxia 5, autosomal recessive, OMIM:614487",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:32:36.313736Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.257",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS review. Two families have been reported (PMID: 32219868) with recessive disease including optic atrophy associated with hearing loss, intellectual disability and ataxia, among others. This was considered sufficient to rate as green under AD/AR inheritance on the Optic neuropathy (R41) panel and therefore this MOI should also be reflected on the Retinal disorders panel.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:32:36.293373Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.257",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-04-19T11:24:47.159975Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.256",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-04-16T05:45:08.518812Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRPF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21549338, 32335390; Phenotypes: Retinitis pigmentosa 60, MIM# 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2022-04-12T14:18:09.657549Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.256",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Eye Disorders to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-04-12T14:05:16.066312Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.255",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MYO7A were changed from Eye Disorders to Usher syndrome, type 1B, OMIM:276900",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2022-04-12T14:02:37.805264Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.254",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I, 267750 to Knobloch syndrome, type 1, OMIM:267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-04-12T14:01:24.596183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.253",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COL18A1 were set to ",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2022-04-05T16:05:18.191570Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.252",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CTNNB1 were set to 28575650; 28514307",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:08:27.885369Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.251",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678; 21937992",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:07:29.217363Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.250",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: PEX6: Retinal involvement is mentioned in Peroxisome biogenesis disorder 4B (OMIM:614863)(PMID:21937992; 22871920).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:04:31.219996Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.250",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595; 29220678",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:02:28.710252Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.249",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Penetrance for gene PEX6 was set from to None",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:02:01.939087Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.248",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:00:46.706951Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.248",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, OMIM:616617, MONDO:0014709 to Heimler syndrome 2, OMIM:616617; MONDO:0014709; Peroxisome biogenesis disorder 4B, OMIM:614863",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:59:27.669902Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.247",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:59:02.454255Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.246",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:59:02.422380Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.246",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:58:44.670341Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_22_MOI tag was added to gene: PEX6.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:50:04.031623Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: ZFYVE26.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:55.832752Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: UNC119.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:47.997827Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: TUBB4B.",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:41.186073Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: TMEM218.\nTag Q4_21_NHS_review was removed from gene: TMEM218.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:33.182225Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:20.544120Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: MED12.\nTag Q3_21_rating was removed from gene: MED12.\nTag Q3_21_expert_review was removed from gene: MED12.",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:27.733881Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: IMPG1.",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:12.827645Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:47:37.748181Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: FAM57B.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:47:18.975533Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: ARL3.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:47:09.668874Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: AMACR.\nTag Q2_21_NHS_review was removed from gene: AMACR.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:47:00.426062Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:46:58.565851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:46:51.875343Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_rating was removed from gene: ALDH3A2.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:46:41.360446Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:46:30.264357Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: ACBD5.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.321403Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ZFYVE26: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.309596Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: UNC119: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.296236Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TUBB4B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.283319Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.269152Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TMEM218: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.257486Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MED12",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.241914Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: IMPG1",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.225973Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: FAM57B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.212851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ARL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.201137Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.189561Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.176464Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.166294Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ALDH3A2",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:33.148480Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.245",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ACBD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:30.187667Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ZFYVE26.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:30.055237Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to UNC119.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:29.914333Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBB4B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:29.670210Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMEM218.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:29.327545Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MED12.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:29.200476Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:29.082913Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to FAM57B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:28.952375Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARL3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:28.714566Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to AMACR.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:28.478077Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALDH3A2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:43:28.326925Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.244",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACBD5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:28:39.859798Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: GRN.",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:28:04.005483Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: P3H2.\nTag deletions tag was added to gene: P3H2.",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:27:57.133113Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MSTO1.",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:27:52.322098Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SSBP1.",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:27:32.453337Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:27:24.941436Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:26:11.145419Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CA4.",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:57.829127Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: HARS.",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:49.783728Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CIB2.",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:29.352065Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TRIM32.",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:12.397822Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TUBGCP6.",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:07.883013Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PNPLA6.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:25:02.356214Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PLK4.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:27.804934Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MTTP.",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:21.105792Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: LAMA1.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:15.517643Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: IFT27.",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:08.159651Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: IFT172.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:24:02.601792Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: GNB3.",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:23:57.139063Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CTNNA1.\nTag Q1_22_NHS_review was removed from gene: CTNNA1.",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:22:00.178428Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CEP250.",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:21:54.706397Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:21:49.342738Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ARL13B.",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:21:06.888999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:20:59.588332Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: IFT74.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:18:44.416545Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CTC1.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:14:18.093092Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ALPK1.\nTag Q4_21_NHS_review was removed from gene: ALPK1.",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:14:04.501594Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:13:48.558660Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SLC6A6.",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:13:43.693533Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: USP45.",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:13:38.249972Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: DRAM2.",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:13:09.805843Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TINF2.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:13:03.152862Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TMEM216.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:12:56.037618Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ROM1.",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:12:50.987966Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TUBGCP4.",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:12:45.393799Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TRNT1.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:12:09.482435Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TREX1.",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:11:58.725139Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PRDM13.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:11:51.204731Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: POMGNT1.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:11:42.010879Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PAX2.",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:08:06.302710Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NEUROD1.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:07:56.532102Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TRAF3IP1.",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:07:45.899466Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: TMEM231.",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:07:34.489369Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RIMS2.",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:07:25.401927Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PEX6.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.097618Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: HK1: Submitted on behalf of NHS GMS \"Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature.\" and \"This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.\"",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.082488Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: P3H2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.070762Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.056532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SSBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.042898Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: HK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.030857Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CA4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.019018Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: HARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:36.007022Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CIB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.994917Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TRIM32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.983224Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TUBGCP6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.972015Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PNPLA6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.961116Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PLK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.948191Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MTTP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.937092Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: LAMA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.926064Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.914846Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: IFT172: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.903894Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GRN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.892672Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GNB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.881243Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CTNNA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.869508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CEP250: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.858388Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ARL13B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.847023Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.836016Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MMACHC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.824573Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.813179Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CTC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.802046Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ALPK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.790663Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ABCC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.778496Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SLC6A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.767406Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: USP45: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.756345Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: DRAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.746448Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TINF2",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.731662Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.720224Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: ROM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.708455Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TUBGCP4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.697411Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TRNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.686020Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TREX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.674874Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PRDM13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.663505Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: POMGNT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.652254Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PAX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.639401Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NEUROD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.626083Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TRAF3IP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.612005Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TMEM231: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.598195Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: RIMS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.584516Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PEX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.449243Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to P3H2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.319499Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MSTO1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.195481Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to SSBP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:35.044760Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to HK1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:34.901550Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to CA4.\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:34.745235Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to HARS.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:34.585628Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to CIB2.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:34.420357Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Red was added to TRIM32.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:34.265098Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBGCP6.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.958002Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PNPLA6.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.828626Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PLK4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.699458Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MTTP.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.570013Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to LAMA1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.432912Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to IFT27.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.296349Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to IFT172.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:33.164142Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GRN.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.936786Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GNB3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.805155Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTNNA1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.674445Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CEP250.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.547966Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARL13B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.417585Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to AFG3L2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.291084Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to MMACHC.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.164618Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to IFT74.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:32.005140Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to CTC1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:31.876403Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ALPK1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:31.746029Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABCC6.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:31.620150Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC6A6.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.795986Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to USP45.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.668597Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to DRAM2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.543372Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TINF2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.413880Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMEM216.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.285543Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to ROM1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.159305Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBGCP4.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:30.010814Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRNT1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:29.876034Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TREX1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:29.747738Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PRDM13.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:29.624143Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to POMGNT1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:29.490880Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PAX2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:29.340928Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to NEUROD1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:29.192677Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRAF3IP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:28.993203Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to TMEM231.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:28.840385Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to RIMS2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:06:28.675531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.243",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to PEX6.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-03-07T18:49:30.238500Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Mohammed Derar",
"item_type": "entity",
"text": "reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: Poulter et al (2013) (PMID: 24290379), Campbell et al. (2019) (DOI: 31719542); Phenotypes: foveal hypoplasia, chiasmal misrouting, anterior segment dysgenesis, nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2022-03-07T18:17:00.949211Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Mohammed Derar",
"item_type": "entity",
"text": "gene: FRMD7 was added\ngene: FRMD7 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FRMD7 were set to Choi et al. (2018) (PMID: 30025138); Thomas et al. (2014) (PMID:24688117)\nPhenotypes for gene: FRMD7 were set to Infantile nystagmus; foveal hypoplasia\nPenetrance for gene: FRMD7 were set to unknown\nReview for gene: FRMD7 was set to GREEN\nAdded comment: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014) \nSources: Literature",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2022-03-07T17:52:11.257342Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Mohammed Derar",
"item_type": "entity",
"text": "reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: Zhou et al. (2018) (PMID: 29726989), Mayer et al. (2019) (PMID: 31009037); Phenotypes: Retinitis pigmentosa, Foveal hypoplasia, infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2022-03-07T16:18:04.300111Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Mohammed Derar",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: Hingorani et al. (2009) (PMID: 19218613), Thomas et al (2014) (PMID: 23942204); Phenotypes: foveal hypoplasia, optic nerve hypoplasia, anirdia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:31:41.418308Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Ronnie Wright",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-01-25T08:57:24.244580Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q1_22_NHS_review tag was added to gene: CTNNA1.",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:27:13.827289Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26691986, 33137351; Phenotypes: Macular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:22:09.769797Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "changed review comment from: Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4); to: Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4)",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:21:53.067442Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32455177, 33629623, 29300381, 33300174; Phenotypes: Retinal dystrophy, late-onset sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2022-01-20T12:06:12.817863Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Retinal disorders. Sources: Expert Review,Literature\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667\nPhenotypes for gene: RNU4ATAC were set to Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature\nPenetrance for gene: RNU4ATAC were set to Complete\nReview for gene: RNU4ATAC was set to GREEN\nAdded comment: Noted by OMIM to cause Roifman and Lowry-Wood syndrome, both of which have been associated with retinal dystrophy in the literature\r\nSubmitted to PanelApp as we have a patient with Lowry-Wood syndrome and a retinal dystrophy, where we believe we have found two pathogenic variants in RNU4ATAC \nSources: Expert Review, Literature",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2022-01-10T15:09:24.550446Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.242",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-01-06T10:30:49.444270Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.241",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PAK2 was added\ngene: PAK2 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK2 were set to 33693784\nPhenotypes for gene: PAK2 were set to Knobloch 2 syndrome\nReview for gene: PAK2 was set to RED\nAdded comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity. \nSources: Literature",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-01-04T17:14:33.422229Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.240",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_22_MOI tag was added to gene: SSBP1.",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2022-01-04T17:14:10.505876Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.240",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2022-01-04T15:51:02.758818Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.240",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:33:21.561366Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.239",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_NHS_review tag was added to gene: ALPK1.",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:32:37.369756Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.239",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added new publication (PMID:31053777;34159509).",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:32:37.355528Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.239",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ALPK1 were set to 30967659; 31939038",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:30:54.477672Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.238",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: HKDC1 as Red List (low evidence)",
"entity_name": "HKDC1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:30:54.474730Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.238",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (limited). PMID: 30085091 also describes a mouse knockout model. In the mouse model, the retinal degeneration phenotypes were mild (like that seen in humans) and did not have retinal phenotypes until 9 months (similar to the late onset in humans). There is currently not enough evidence to support a gene-disease association. This gene is borderline Red/Amber.",
"entity_name": "HKDC1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:30:54.448455Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.238",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: hkdc1 has been classified as Red List (Low Evidence).",
"entity_name": "HKDC1",
"entity_type": "gene"
},
{
"created": "2021-12-07T10:13:28.071621Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.237",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HKDC1 were changed from Retinitis pigmentosa 92, MIM# 619614 to Retinitis pigmentosa 92, OMIM:619614",
"entity_name": "HKDC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:08:29.769939Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.236",
"user_name": "Neringa Jurkute",
"item_type": "entity",
"text": "changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. \r\n\r\nPMID: 30967659; 31053777; 31939038; 34159509; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal changes, chronic disc swelling observed in majority of cases. \r\n\r\nOMIM: 614979\r\n\r\nPMID: 30967659; 31053777; 31939038; 34159509",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:07:51.425868Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.236",
"user_name": "Neringa Jurkute",
"item_type": "entity",
"text": "changed review comment from: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individual shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. \r\n\r\nPMID: 30967659; 31053777; 31939038; 34159509; to: Recurrent variant has been reported in affected individuals from 9 unrelated families. Affected individuals shared overlapping phenotype with retinal dystrophy, chronic disc swelling observed in majority of cases. \r\n\r\nPMID: 30967659; 31053777; 31939038; 34159509",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:06:37.260006Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.236",
"user_name": "Neringa Jurkute",
"item_type": "entity",
"text": "reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30967659, 31053777, 31939038, 34159509; Phenotypes: Retinal dystrophy, optic disc swelling, splenomegaly, headaches, ocular inflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-12-04T00:59:11.039521Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HKDC1 was added\ngene: HKDC1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HKDC1 were set to 30085091\nPhenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614\nReview for gene: HKDC1 was set to RED\nAdded comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant. \nSources: Literature",
"entity_name": "HKDC1",
"entity_type": "gene"
},
{
"created": "2021-11-23T10:38:33.592410Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.236",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELOVL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-23T10:38:19.564337Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.235",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:21:03.354687Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.234",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Neurological ciliopathies v1.24",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-17T15:21:03.306549Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.234",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TMEM218 was added\ngene: TMEM218 was added to Retinal disorders. Sources: Literature,Expert Review Amber\nQ4_21_rating, Q4_21_NHS_review tags were added to gene: TMEM218.\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to 25161209; 33791682\nPhenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:54:56.580191Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.233",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ATXN7 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:54:48.858842Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.232",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: ATXN7.\nTag currently-ngs-unreportable tag was added to gene: ATXN7.",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:51:00.846567Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.232",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ATXN7 as Red List (low evidence)",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:51:00.840952Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.232",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: atxn7 has been classified as Red List (Low Evidence).",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:50:55.059084Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.231",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:50:55.025447Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.231",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN7 was changed from to Other",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-05T16:50:21.107576Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.230",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN7 were changed from to Spinocerebellar ataxia 7, OMIM:164500",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-11-01T12:46:34.403070Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.229",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B \t133540 to Cockayne syndrome, type B, OMIM:133540",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-10-28T12:57:44.321555Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.228",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DHDDS were changed from Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa 59, 613861 to Retinitis pigmentosa 59, OMIM:613861",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:35:24.314029Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.227",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A2 were changed from Eye Disorders to Stickler syndrome, type V, OMIM:614284",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:34:55.861086Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.226",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:14:42.922308Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.225",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A1 were changed from Eye Disorders to Stickler syndrome, type IV, OMIM:614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-10-27T09:14:25.309836Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.224",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-10-26T09:55:23.877099Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.223",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from Eye Disorders to Stickler syndrome, type II, OMIM:604841",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:48:13.115191Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.222",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: ARL3: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype (possible - RP, and probable - Joubert syndrome). There is enough evidence to support a gene-disease association for both MOIs. This gene should be rated as Green at the next review.; Changed rating: GREEN",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:46:59.532850Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.222",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: ARL3.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:46:51.265880Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.222",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:46:45.571683Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.221",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARL3 were changed from to Joubert syndrome 35, OMIM:61816; cone-rod dystrophy, MONDO:0015993; Retinitis pigmentosa 83, OMIM:618173",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:46:17.610461Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.220",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID:30269812 describes 2 unrelated consanguineous families (Saudi and Pakistani). Both have phenotype resembling Joubert syndrome (night blindness, rod-cone dystrophy, mild dysmorphic features, hypotonia (only in 1 family), ataxia, cerebellar vernis hypoplasia). Both are homozygous missense for the same amino acid residue (R149C, R149H). The authors performed some in vitro functional analysis.\r\n\r\nPMID:16565502 describes a knockout mouse model of Arl3. The homozygous knockouts developed ciliary disease affecting kidney, biliary tract, pancreas and retina. However, there was no mention of a brain phenotype.\r\n\r\nPMID:31743939 describes 2 large consanguineous Pakastani families with the same homozygous variant (Arg99Ile). There are 8 affected individuals in total and 7/8 had cone-rod dystrophy and no features of Joubert syndrome.\r\n\r\nPMID:33748123 describes a Chinese family. Proband is compound het (c.91A>G, p.T31A; c.353G>T, p.C118F) and has retinal dystrophy. Heterozygous father has late onset and mild rode-cone dystrophy. Mother and sister (het) are normal. All family members did not have any other phenotypes.\r\n\r\nPMID:26964041 describes a family with affected mother, son and daughter with retinitis pigmentosa. Affected patients were heterozygosity for Y90C. The mother's parents do not have the variant suggesting that it is a de novo event in the mother. No functional studies of the variant were performed.\r\n\r\nPMID:30932721 reports a case where a patient has a de novo Y90C variant and has RP.\r\n\r\nPMID:34485303 reports a heterozygous Asp67Val variant segregating in an Ashkenazi Jewish family with a dominant inherited retinal degenerations.",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-18T10:46:17.594330Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.220",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ARL3 were set to ",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2021-10-13T10:42:20.437952Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.219",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Review of mode of inheritance:\r\nMacular dystrophy, vitelliform, 2 OMIM:153700 - many heterozygous cases reported\r\n\r\nOMIM also lists Bestrophinopathy, autosomal recessive OMIM:611809 and Retinitis pigmentosa, concentric and Retinitis pigmentosa-50 OMIM:613194 but with no inheritance pattern listed.\r\n\t\r\nReports for 11 biallelic cases:\r\n\r\nPMID: 18179881 Burgess et al 2008 - report on the analysis of the BEST1 gene in 7 affected individuals from 5 unrelated families of European ethnicity. Clinical electrophysiology of affected individuals showed abnormal full-field ERGs in addition to a severe reduction in the electrooculogram (EOG) light rise analogous to that seen with dominant BEST1 mutations that cause both Best disease and autosomal-dominant vitreoretinochoroidopathy. In all families homozygous or compound het variants in BEST1 were found (6 missense, 1 nonsense). 10 asymptomatic heterozygotes were examined in detail and were found to have a normal retinal examination, ERG responses, and EOG light rise.\r\n\r\nPMID: 34327816 - Nowomiejska et al 2021 - in retrospective variant-phenotype analysis they report 6 patients with either homozygous or compound het variants in BEST1, aswell as 24 patients with heterozygous variants.; to: Review of mode of inheritance:\r\nMacular dystrophy, vitelliform, 2 OMIM:153700 - many heterozygous cases reported\r\n\r\nOMIM also lists Bestrophinopathy, autosomal recessive OMIM:611809 and Retinitis pigmentosa, concentric and Retinitis pigmentosa-50 OMIM:613194 but with no inheritance pattern listed.\r\n\t\r\nReports for 11 biallelic cases:\r\n\r\nPMID: 18179881 Burgess et al 2008 - report on the analysis of the BEST1 gene in 7 affected individuals from 5 unrelated families of European ethnicity. Clinical electrophysiology of affected individuals showed abnormal full-field ERGs in addition to a severe reduction in the electrooculogram (EOG) light rise analogous to that seen with dominant BEST1 mutations that cause both Best disease and autosomal-dominant vitreoretinochoroidopathy. In all families homozygous or compound het variants in BEST1 were found (6 missense, 1 nonsense). 10 asymptomatic heterozygotes were examined in detail and were found to have a normal retinal examination, ERG responses, and EOG light rise.\r\n\r\nPMID: 34327816 - Nowomiejska et al 2021 - in a retrospective variant-phenotype analysis they report 6 patients with either homozygous or compound het variants in BEST1, aswell as 24 patients with heterozygous variants.",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-12T16:12:35.993653Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.219",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Was Achromatopsia, Cone, and Cone-rod Dystrophy; Best macular atrophy (AD); Bestrophinopathy (AR); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD); Retinitis pigmentosa, concentric (AD); Retinitis pigmentosa-50 (AD); Vitelliform macular dystrophy, adult-onset (AD); Vitreoretinochoroidopathy (AD); Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Best Vitelliform Macular Dystrophy;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Best macular dystrophy, 153700;Macular Dystrophy/Degeneration/Stargardt Disease;Macular Dystrophy, Vitelliform; VMD;Macular Dystrophy, Vitelliform, Adult-Onset;Best macular dystrophy",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-12T16:12:35.944115Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.219",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: BEST1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Best macular atrophy (AD); Bestrophinopathy (AR); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD); Retinitis pigmentosa, concentric (AD); Retinitis pigmentosa-50 (AD); Vitelliform macular dystrophy, adult-onset (AD); Vitreoretinochoroidopathy (AD); Best macular dystrophy, 153700; Maculopathy, bull's-eye; Vitelliform macular dystrophy, adult-onset, 608161; Bestrophinopathy, 611809; Vitreoretinochoroidopathy, 193220; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1; Best Vitelliform Macular Dystrophy; Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Best macular dystrophy, 153700; Macular Dystrophy/Degeneration/Stargardt Disease; Macular Dystrophy, Vitelliform; VMD; Macular Dystrophy, Vitelliform, Adult-Onset; Best macular dystrophy to ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220; Bestrophinopathy, autosomal recessive\t, OMIM:611809; Macular dystrophy, vitelliform, 2, OMIM:153700; Retinitis pigmentosa, concentric, OMIM:613194; Retinitis pigmentosa-50, OMIM:613194; Vitreoretinochoroidopathy, OMIM:193220",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-12T16:09:30.319647Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.218",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: BEST1 were set to ",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-12T16:09:12.435576Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.217",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Review of mode of inheritance in Oct 2021 - there are cases of both biallelic and monoallelic inheritance related to a retinal disorder.",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-12T16:09:12.417552Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.217",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: BEST1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-12T16:07:43.537258Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: BEST1: Rating: ; Mode of pathogenicity: None; Publications: 18179881, 34327816; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2021-10-04T14:04:49.577301Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: MED12.",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:19:35.986387Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Skewed X-inactivation tag was added to gene: MED12.",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:54:00.470320Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: IRX6.\nTag Q3_21_expert_review tag was added to gene: IRX6.",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:53:36.444653Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: IRX6: Added comment: Ideally, a region representing the IRX5/IRX6 duplication should be added to PanelApp with a monallelic mode of inheritance. There is a lack of single nucleotide variants reported in this gene with relevance to retinal disorders and and therefore adding this gene as green risks reporting irrelevant SNVs.; Changed rating: AMBER",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:52:21.175799Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of function/gene\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. \r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).\r\n; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of gene/small variants\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. \r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).\r\n",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:51:01.309094Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Changed rating: AMBER",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:50:13.799052Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: IRX5: Ideally, a region representing the IRX5/IRX6 duplication should be added to PanelApp with a monallelic mode of inheritance. There is a lack of single nucleotide variants reported in this gene with relevance to retinal disorders and and therefore adding this gene as green risks reporting irrelevant SNVs alongside carrier status for Hamamy syndrome (biallelic)",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:43:08.905972Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_expert_review tag was added to gene: IRX5.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:13:04.142029Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_21_rating tag was added to gene: MED12.",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:10:38.908527Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:10:38.868939Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.216",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:10:15.652710Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: MED12 as Amber List (moderate evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:10:15.649059Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting this gene from red to amber, but with a recommendation for green rating following GMS review. 5 cases reported with a retinal phenotype and likely disease causing variants in MED12.",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:10:15.615280Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.215",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: med12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:08:49.574151Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.214",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Retinal disorders. Sources: Literature\nQ3_21_expert_review tags were added to gene: MED12.\nMode of inheritance for gene: MED12 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: MED12 were set to 33244166\nPhenotypes for gene: MED12 were set to Hardikar syndrome, OMIM:612726; cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997\nReview for gene: MED12 was set to GREEN\nAdded comment: Zorntiza Stark reviewed this gene on the Clefting panel. Li et al 2021 (PMID: 33244166) report 7 females with Hardikar syndrome each of whom have had a nonsense or frameshift MED12 variant identified by exome sequencing. All five tested patients showed evidence of skewed x chromosome inactivation. 5 of the patients are reported to have a retinal phenotype (retinal rarefaction, pigmentary retinopathy, cat’s paw retinal pigmentation). \r\n\r\nHardikar syndrome is noted for the preserved neurodevelopment in patients unlike the other disorders associated with this gene. \nSources: Literature",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:42:44.776032Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.213",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SPTLC2 as Red List (low evidence)",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:42:44.772409Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.213",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype.\r\n\r\nPMID: 31509666 reported on 2 unrelated families (family 1 and 2) and 3 unrelated individuals (patients 1, 2 and 3) who have HSAN1 and have variants in SPTLC1 (2 families and patient 1 have the same heterozygous variant C133Y, and patient 2 and 3 have C133W, also heterozygous). Those with the C133Y variant have HSAN1 and macular telangiectasia type 2 and those with C133W variant only have HSAN1 and no eye phenotype. The authors note that patients with C133W both patients were under the age of 50 and had been treated with serine supplementation.\r\n\r\nAffected members of family 3 was diagnosed with HSAN1C and were heterozygous for S384F in SPTLC2 and macular telangiectasia type 2.\r\n\r\nAs there is only one case, there is not enough evidence to support a gene-disease association. This gene has been given a Red rating.",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:42:44.742306Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.213",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sptlc2 has been classified as Red List (Low Evidence).",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:41:02.737202Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.212",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SPTLC2 were set to PMID: 31509666",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:39:55.190014Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.211",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: SPTLC1.",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:39:44.488716Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.211",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SPTLC1 as Amber List (moderate evidence)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:39:44.484150Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.211",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.\r\n\r\nPMID: 31509666 reported on 2 unrelated families (family 1 and 2) and 3 unrelated individuals (patients 1, 2 and 3) who have HSAN1 and have variants in SPTLC1 (2 families and patient 1 have the same heterozygous variant C133Y, and patient 2 and 3 have C133W, also heterozygous). Those with the C133Y variant have HSAN1 and macular telangiectasia type 2 and those with C133W variant only have HSAN1 and no eye phenotype. The authors note that patients with C133W both patients were under the age of 50 and had been treated with serine supplementation.\r\n\r\nAffected members of family 3 was diagnosed with HSAN1C and were heterozygous for S384F in SPTLC2 and macular telangiectasia type 2.\r\n\r\nWhile there appears to be a link between this gene and macular telangiectasia type 2, all affected families/individuals have the same variant. Therefore, there is currently enough evidence to support a gene-disease association. This gene has been given an Amber rating until more information is available.",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:39:44.449737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.211",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T09:55:24.366540Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.210",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SPTLC1 were set to PMID: 31509666",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-09-26T14:50:30.636913Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.209",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: SPTLC2 was added\ngene: SPTLC2 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC2 were set to PMID: 31509666\nPhenotypes for gene: SPTLC2 were set to macular telangiectasia type 2; vision loss; neuropathy\nPenetrance for gene: SPTLC2 were set to unknown\nReview for gene: SPTLC2 was set to GREEN\nAdded comment: Common feature of HSAN1 macular telangiectasia type 2 and identified in two families with primarily diagnosed macular telangiectasia type 2 in PMID: 31509666. \nSources: Literature",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2021-09-26T14:48:12.007354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.209",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: SPTLC1 was added\ngene: SPTLC1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC1 were set to PMID: 31509666\nPhenotypes for gene: SPTLC1 were set to macular telangiectasia type 2; vision loss\nPenetrance for gene: SPTLC1 were set to unknown\nReview for gene: SPTLC1 was set to GREEN\nAdded comment: Common feature of HSAN1 macular telangiectasia type 2 and identified in two families with primarily diagnosed macular telangiectasia type 2 in PMID: 31509666. \nSources: Literature",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:40:29.505325Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: LRP1 as Red List (low evidence)",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:40:29.501877Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-14T09:40:29.474937Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: lrp1 has been classified as Red List (Low Evidence).",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-13T08:03:01.830623Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP1 was added\ngene: LRP1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: LRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRP1 were set to 33776059\nPhenotypes for gene: LRP1 were set to Macular drusen\nReview for gene: LRP1 was set to RED\nAdded comment: PMID: 33776059 - 2x unrelated individuals with compound heterozygous missense variants and inherited retinal disorder/macular drusen. No functional data. \nSources: Literature",
"entity_name": "LRP1",
"entity_type": "gene"
},
{
"created": "2021-09-06T10:22:35.337428Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.208",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, OMIM:118450",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2021-09-06T10:22:22.955397Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.207",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2021-08-24T16:00:01.845017Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.206",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Amber List (moderate evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T16:00:01.841868Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.206",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are sufficient unrelated cases (>3) with retinal abnormalities associated with variants in this gene to warrant a Green rating at the next GMS panel update.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T16:00:01.824480Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.206",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-24T15:57:47.345407Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.205",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Retinal disorders. Sources: Literature\nQ3_21_rating tags were added to gene: ALDH3A2.\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH3A2 were set to 25784589; 29071827; 29183715; 31273323\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200\nReview for gene: ALDH3A2 was set to GREEN\nAdded comment: Biallelic variants in this gene are associated with Sjogren-Larsson syndrome (MIM# 270200). Some affected individuals exhibit ocular manifestations which include a distinctive retinal abnormality characterised by macular degeneration with perifoveal crystalline inclusions (also referred to as glistening white dots) which develop in the first few years of life. There are also some reports of patients with retinal pigmentary degeneration in the macular region and thinning of the retinal layers. \nSources: Literature",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:11:30.582561Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.204",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-23T15:11:14.946854Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.203",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:08:47.910636Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IMPG1 as Green List (high evidence)",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:08:47.903286Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: impg1 has been classified as Green List (High Evidence).",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:07:30.801721Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.201",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IMPG1 as Amber List (moderate evidence)",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:07:30.792069Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.201",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: impg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:07:01.289367Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.200",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: There is sufficient evidence to support the pathogenicity of both mono- and biallelic variant in the context of retinal disorders - and therefore, the MOI should be changed from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:07:01.269746Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.200",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:04:24.481991Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.199",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: IMPG1: Penetrance for gene IMPG1 was set to 'Incomplete' - asymptomatic heterozygous carriers of IMPG1 variants with normal clinical examinations have been observed (PMIDs: 23993198 and 32817297) indicating incomplete penetrance",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:02:03.036651Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.199",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Penetrance for gene IMPG1 was set from to Complete\nTag Q3_21_MOI tag was added to IMPG1.",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T14:59:58.039104Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.198",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: IMPG1 were changed from Macular dystrophy, vitelliform, 4 to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T14:59:49.544758Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.197",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: IMPG1 were set to ",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T14:59:34.713611Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.196",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: IMPG1: Changed phenotypes to: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa, MONDO:0019200",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-06T14:58:07.578786Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.196",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993198, 28644393, 30589393, 30688845, 32817297; Phenotypes: Macular dystrophy, vitelliform, 4, OMIM:616151, Retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2021-08-05T15:04:07.401642Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.196",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35 to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35; Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy\nPanel version 2.195 has been signed off on 2021-08-05",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-03T14:49:09.476893Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.195",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previously:\r\nLeber Congenital Amaurosis;Retinitis pigmentosa-12, autosomal recessive, 600105Leber congenital amaurosis 8, 613835Pigmented paravenous chorioretinal atrophy, 172870;Eye Disorders;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa-12, autosomal recessive, 600105",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-08-03T14:49:09.453269Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.195",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CRB1 were changed from Leber Congenital Amaurosis; Retinitis pigmentosa-12, autosomal recessive, 600105Leber congenital amaurosis 8, 613835Pigmented paravenous chorioretinal atrophy, 172870; Eye Disorders; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa-12, autosomal recessive, 600105 to Leber Congenital Amaurosis, OMIM:613835; Retinitis pigmentosa-12, OMIM:600105",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T13:19:33.756459Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.194",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TSPAN12 were changed from Eye Disorders to Eye Disorders; Exudative vitreoretinopathy 5, OMIM:613310",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-07-08T14:06:36.621031Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag cnv tag was added to gene: IRX6.",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-07-08T13:41:51.573972Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Changed phenotypes to: cone dystrophy, MONDO:0000455, retinitis pigmentosa, MONDO:0019200",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-08T13:37:35.976071Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Not associated with any disorder in OMIM or Gene2Phenotype.\r\n\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \r\nSources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.\r\n\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \r\nSources: Literature",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-07-08T13:19:10.703841Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of function/gene\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. \r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).\r\n; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of function/gene\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. \r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).\r\n",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-08T13:18:38.172060Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Changed publications to: 33891002, 28041643, 32045705, 22581230, 17230486",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-08T13:14:32.464821Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nCone dystrophy\r\n-------------------\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. ; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nDuplication of gene\r\n-------------------\r\nPMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nLoss of function/gene\r\n---------\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. \r\n\r\nPMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).\r\n",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:39:27.845307Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.193",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: IRX5 were changed from cone dystrophy, MONDO:0000455 to cone dystrophy, MONDO:0000455; retinitis pigmentosa, MONDO:0019200",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:37:47.912678Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.192",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nCone dystrophy\r\n-------------------\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nCone dystrophy\r\n-------------------\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.\r\n\r\nPMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa. ",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:09:05.410343Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.192",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag cnv tag was added to gene: IRX5.\nTag Q3_21_rating tag was added to gene: IRX5.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:08:22.758093Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.192",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: IRX5 were changed from Retinitis pigmentosa to cone dystrophy, MONDO:0000455",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:07:51.903033Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.191",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: IRX5 were set to 28041643",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:07:32.826374Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.190",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IRX5 was changed from to Other",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:07:23.848393Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.189",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T12:58:24.243888Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.188",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \nSources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.\r\n\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \r\nSources: Literature",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-07-07T12:57:25.738684Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.188",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: IRX6: Changed rating: GREEN",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-07-07T12:57:17.492068Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.188",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: IRX6 was added\ngene: IRX6 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IRX6 were set to 33891002\nPhenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455\nMode of pathogenicity for gene: IRX6 was set to Other\nAdded comment: PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \nSources: Literature",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-07-07T12:56:20.283095Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.187",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: IRX5: Changed mode of pathogenicity: Other",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T12:54:57.307531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.187",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nCone dystrophy\r\n-------------------\r\nPMID: 33891002 - Khol et al 2021 - report 3 families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.\r\n\r\nCone dystrophy\r\n-------------------\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments. \r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected. \r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T12:54:10.426233Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.187",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33891002; Phenotypes: cone dystrophy, MONDO:0000455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:56:12.875233Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.187",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from Growth failure in early childhood v1.70",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-06-16T14:56:12.836684Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.187",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ZPR1 was added\ngene: ZPR1 was added to Retinal disorders. Sources: Expert Review Red,Literature\nfounder-effect tags were added to gene: ZPR1.\nMode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPR1 were set to 29851065\nPhenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:51:51.967566Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.186",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: LIG3.\nTag watchlist tag was added to gene: LIG3.",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:51:40.671047Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.186",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: LIG3: Added comment: As only 2 affected families have macular degeneration this gene has been given an Amber rating until more evidence is available.; Changed rating: AMBER",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:50:30.588678Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.186",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-05-19T12:50:30.531327Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.186",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LIG3 was added\ngene: LIG3 was added to Retinal disorders. Sources: Expert Review Amber,Literature\nQ2_21_rating tags were added to gene: LIG3.\nMode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG3 were set to 33855352\nPhenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:43:10.518663Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.185",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FAM57B as Amber List (moderate evidence)",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:43:10.515571Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.185",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:43:10.493765Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.185",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: fam57b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-05-04T15:42:02.601891Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.184",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: FAM57B.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-04-21T09:05:25.884892Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.184",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ACBD5 were set to 27799409; 23105016",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-21T09:05:15.532333Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.183",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ACBD5 as Amber List (moderate evidence)",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-21T09:05:15.527774Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.183",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is are now sufficient unrelated cases (4) of retinal dystrophy in patients with biallelic ACBD5 variants to promote this gene to Green at the next GMS panel update.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-21T09:05:15.504809Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.183",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: acbd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-21T09:00:25.073884Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.182",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: ACBD5.\nTag Q2_21_rating tag was added to gene: ACBD5.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-21T09:00:07.237884Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.182",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ACBD5: A fourth individual was identified by Dr Helen Brittain (Genomics England Clinical Fellow) who presented with retinal dystrophy, ataxia and developmental regression at 2 yrs old",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-21T08:59:20.510161Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.182",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-04-20T10:33:25.320909Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.182",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: FAM57B were changed from Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993; Maculopathy",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-04-20T10:32:43.131942Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.181",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FAM57B were set to 28041643",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-04-20T10:32:36.176216Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.180",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM57B was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-04-20T10:30:16.417642Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.179",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNA1 were changed from Macular dystrophy, patterned, 2, OMIM:608970 to Macular dystrophy, patterned, 2, OMIM:608970; exudative vitreoretinopathy, MONDO:0019516",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-04-20T10:29:27.184757Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.178",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CTNNA1 were set to 26691986",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-04-19T08:44:34.644101Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CTNNA1: Added comment: In addition, three independent families reported with familial exudative vitreoretinopathy (FEVR) in PMID33497368.; Changed publications: 26691986, 33497368; Changed phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970, Familial exudative vitreoretinopathy",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-04-15T11:03:32.874105Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM57B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33077892; Phenotypes: Cone–rod dystrophy, Maculopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:11:56.579398Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.177",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: AMACR as Amber List (moderate evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:11:56.576033Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.177",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Hannah Knight (Moorfields Eye Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:11:56.550137Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.177",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: amacr has been classified as Amber List (Moderate Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:11:10.458040Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.176",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: AMACR.\nTag Q2_21_NHS_review tag was added to gene: AMACR.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:10:19.762193Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.176",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200; Alpha-methylacyl-CoA racemase deficiency, OMIM:614307",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-12T14:08:53.232137Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.175",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:29:36.779116Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.174",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: CLN5 were changed from Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:00:38.837883Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.173",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-03-31T09:37:18.580723Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897\nPhenotypes for gene: AMACR were set to Retinitis pigmentosa\nPenetrance for gene: AMACR were set to Complete\nMode of pathogenicity for gene: AMACR was set to Other\nReview for gene: AMACR was set to GREEN\nAdded comment: Only three reported mutations to our knowledge:\r\nc.154T>C; p.Ser52Pro (most common)\r\nc.367G>A; p.Asp123Asn\r\nc.559G>A; p.Gly187Arg\r\n\r\nFor some patients, the retinal disorder can be the first manifestation of the condition, prior to developing neurological symptoms. We believe this gene should be on the retinal disorders panel to enable a quicker diagnosis and pre-emptive referrals to neurology. \nSources: Literature",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:20:37.195659Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: EVR3.",
"entity_name": "EVR3",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:53:18.341763Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:53:10.820208Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: C12orf65",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:47:00.741200Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ZFYVE26 as Amber List (moderate evidence)",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:47:00.738194Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:47:00.711855Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.172",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: zfyve26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:46:25.332535Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.171",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: ZFYVE26.",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:46:17.343292Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.171",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to 18394578; 14409555; 19805727",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:44:47.732220Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.170",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ZFYVE26 were set to 18394578; 14409555",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:28:15.560737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.169",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive MIM#270700 to Spastic paraplegia 15, autosomal recessive OMIM:270700",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:25:53.836999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.168",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: UNC119 as Amber List (moderate evidence)",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:25:53.834054Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.168",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. Based on the available evidence there are 2 independent cases with an animal model, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:25:53.808769Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.168",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-02-17T16:23:49.764119Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.167",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: UNC119.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-02-17T15:34:46.759325Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.167",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from Eye Disorders to Bardet-Biedl syndrome 15, OMIM:615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-02-17T15:34:20.166859Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.166",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: New publications added",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-02-17T15:34:20.142974Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.166",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2021-02-17T15:12:59.012839Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.165",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: UNC119 were set to ",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2021-02-16T15:19:52.648508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.164",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: TUBB4B.",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2021-02-16T15:19:46.652503Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.164",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TUBB4B as Amber List (moderate evidence)",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2021-02-16T15:19:46.647974Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.164",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2021-02-16T15:19:46.613990Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.164",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tubb4b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:35:25.258233Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.163",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TUBGCP4: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:34:36.892314Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.163",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TUBGCP4.",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:34:30.804820Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.163",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 33137195 extra case",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:34:30.790062Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.163",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TUBGCP4 were set to 25817018; 32270730",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:23:22.066154Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.162",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:23:10.339893Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.161",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TUBGCP4 were set to ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:23:01.973702Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBGCP4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2021-01-27T16:06:36.508735Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.159",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness\tMIM#617879 to Leber congenital amaurosis with early-onset deafness, OMIM:617879",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:57:55.689866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TRNT1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:54:09.514802Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TRNT1.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:52:12.585452Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:52:00.868569Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.157",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:51:13.475621Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.156",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TRNT1 were set to ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:49:42.596716Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.155",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:43:05.080193Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.155",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TRIM32.",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:41:36.845611Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.155",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM32 were changed from Eye Disorders to Bardet-Biedl syndrome 11, OMIM:615988",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:41:00.879130Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.154",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TRIM32 were set to ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:38:48.310560Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.153",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TREX1: This gene is associated with the relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:38:02.835900Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.153",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TREX1.",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:18:15.525672Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.153",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:18:10.796250Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.152",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:18:04.587875Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.151",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from to Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:15:53.702415Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.150",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TRAF3IP1 as Amber List (moderate evidence)",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:15:53.699419Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.150",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:15:53.674155Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.150",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:02:45.100142Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.149",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TRAF3IP1.",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T15:00:54.520463Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.149",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9, MIM#616629 to Senior-Loken syndrome 9, OMIM:616629",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T14:36:50.947677Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.148",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TMEM231 as Amber List (moderate evidence)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-01-27T14:36:50.943180Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.148",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-01-27T14:36:50.906489Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.148",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tmem231 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-01-27T14:17:59.005489Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.147",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TMEM231.",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:55:46.036702Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.147",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 MIM#614970 to Joubert syndrome 20, OMIM:614970",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:49:38.836342Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TMEM216 as Amber List (moderate evidence)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:49:38.832356Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:49:38.799870Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.146",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:47:59.291812Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.145",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TMEM216.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-27T13:29:15.053098Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.145",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from Eye Disorders to Joubert syndrome 2, OMIM:608091, MONDO:0011963; Meckel syndrome 2, OMIM:603194, MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-27T12:59:05.330899Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.144",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SSBP1 as Amber List (moderate evidence)",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T12:59:05.321705Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.144",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be reviewed by the GMS specialist group to see whether the phenotype is appropriate to be included in this panel. \r\n\r\nThis gene is Green on the Optic neuropathy panel (Version 2.29).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T12:59:05.271447Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.144",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ssbp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T12:56:32.436958Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.143",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SSBP1.",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:27:08.747658Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.143",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SSBP1 were changed from Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:12:59.760736Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.142",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: RIMS2.",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:12:54.707348Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.142",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: RIMS2 as Amber List (moderate evidence)",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:12:54.702639Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.142",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:12:54.664721Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.142",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:03:16.611480Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.141",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RIMS2 were changed from Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 to Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:51:37.894023Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.140",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH11 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:51:31.051285Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.139",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RDH11 were changed from to ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:51:07.683704Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.138",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RDH11 were set to ",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:49:17.927359Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PRDM13: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:48:37.738682Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PRDM13.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:48:29.908993Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PRDM13 was changed from to Other",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:48:24.625731Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.136",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDM13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:35:52.155826Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from to North Carolina macular dystrophy, MONDO:0007630",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:32:35.559395Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.134",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PRDM13 were set to ",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:30:49.572843Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: POMGNT1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:29:29.310336Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: POMGNT1.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:29:17.684112Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:20:41.487049Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.132",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: POMGNT1 were set to ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-27T10:20:07.357397Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.131",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from to Retinitis pigmentosa 76, OMIM:617123, MONDO:0014929",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:03:53.258963Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ROM1 as Amber List (moderate evidence)",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:03:53.253859Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is sufficient evidence to support a gene-disease association and it is recommended that this gene should be given Green status.",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:03:53.214875Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:02:29.686560Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ROM1.",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:02:12.100125Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROM1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:43:51.295142Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PEX6 as Amber List (moderate evidence)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:43:51.242685Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:43:51.112757Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:41:11.706460Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PEX6.",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:29:58.328080Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PAX2: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:29:21.941301Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PAX2.",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:29:00.172181Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PAX2 were set to ",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:25:16.393943Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:11:42.630549Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:09:39.133849Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NEUROD1: This gene is not associated with an eye phenotype in OMIM and with no phenotype in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:08:35.322104Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NEUROD1.",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:43:06.031010Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GDF6 as Amber List (moderate evidence)",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:43:06.027574Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been promoted from Red to Amber. As there is not enough evidence to support a gene-disease association, this gene has been given an Amber rating.",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:43:06.008281Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:42:07.043869Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:41:53.544584Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GDF6",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:07:57.705846Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: GDF6.",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T09:00:03.325329Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant, 118100; Leber congenital amaurosis 17; Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4 to Klippel-Feil syndrome 1, autosomal dominant, 118100; Leber congenital amaurosis 17, 615360; Microphthalmia with coloboma 6, digenic, 613703; Microphthalmia, isolated 4, 613094",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-22T08:58:15.576017Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GDF6 were set to PMID: 23307924",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-01-12T10:49:10.582148Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: HK1",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-01-12T10:44:04.106006Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-01-12T09:13:14.462858Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: HK1 were set to 25190649; 25316723",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-01-12T09:09:21.649512Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79 \t617460 to Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:37:28.476494Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEUROD1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:28:48.437737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: HARS",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:27:46.276739Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: HARS.",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:27:07.985012Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: HARS were set to ",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:24:52.181536Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype. \r\n\r\nWhile neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Because of this CTSF has been given a Red rating.; to: Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype. \r\n\r\nWhile neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Based on the phenotype, this gene has been given a Red rating as the phenotype does not fit this panel.",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:23:30.397916Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CTSF as Red List (low evidence)",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:23:30.392126Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene is associated with Ceroid lipofuscinosis, neuronal, 13, Kufs type (also known as Kufs disease or Adult neuronal ceroid lipofuscinosis) in OMIM but not in Gene2Phenotype. \r\n\r\nWhile neuronal ceroid lipofuscinosis are characterized by lysosomal lipopigment storage in neurons, and usually the eye, and cause progressive neurological impairment, motor and intellectual deterioration, seizures, visual failure, and early death, Kufs disease is different. For Kufs disease the retina is not involvolved and the onset is in adulthood (PMID: 21549341). Because of this CTSF has been given a Red rating.",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-01-08T14:23:30.354907Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Red List (Low Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:44:04.154644Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CIB2",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:41:16.426883Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CIB2.",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:25:03.354052Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ROM1 were changed from Retinitis pigmentosa 7, digenic; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 7, digenic, 608133 to Retinitis pigmentosa 7, digenic, OMIM:608133",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:24:18.638128Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ROM1 were set to 8595413; 32716032",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:19:37.186222Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.113",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PNPLA6: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:17:23.634073Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.113",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2021-01-08T13:17:16.920938Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PNPLA6.",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2021-01-08T12:02:33.923493Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, OMIM:215470; Oliver-McFarlane syndrome, OMIM:275400; ?Laurence-Moon syndrome, OMIM:245800",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2021-01-08T12:01:03.500001Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2021-01-08T12:00:00.001219Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TUBGCP6: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T11:59:15.135065Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 31077665 extra case",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T11:59:15.113025Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TUBGCP6 were set to 22279524; 25344692",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T11:58:53.072939Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBGCP6 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T11:58:46.924931Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TUBGCP6.",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T10:33:55.197324Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, OMIM:251270; microcephaly and chorioretinopathy 1, MONDO:0009624",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T10:32:49.533070Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.107",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TUBGCP6 were set to ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2021-01-08T10:02:34.813470Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PLK4: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-01-08T09:58:38.336080Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PLK4.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:46:19.745195Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:46:11.289606Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.105",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:33:27.833314Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.104",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLK4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:27:36.851866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.103",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PLK4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:26:26.248909Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.102",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PLK4 were set to ",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:17:40.644990Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.101",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from Heimler syndrome 2, MIM# 616617 to Heimler syndrome 2, OMIM:616617, MONDO:0014709",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:14:57.787270Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.; to: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. The GMS specialist group should review whether the phenotype for this gene is relevant for inclusion in this panel.",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:14:21.063264Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: P3H2 as Amber List (moderate evidence)",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:14:21.053263Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:14:21.007320Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: p3h2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:12:58.577208Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: P3H2.",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:12:45.219784Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: P3H2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:12:35.196145Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: P3H2 were changed from Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3 to Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:12:00.199510Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: P3H2 were set to ",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:09:58.530376Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.96",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD1 were changed from to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:09:44.052334Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.95",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NEUROD1 were set to ",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:08:01.059279Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MTTP as Amber List (moderate evidence)",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:08:01.054171Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases listed in OMIM. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:08:01.015958Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.94",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mttp has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:06:59.784721Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MTTP.",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:06:52.342906Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.93",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-07T16:06:11.025125Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.92",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MTTP were changed from Eye Disorders to Abetalipoproteinemia, OMIM:200100, MONDO:0008692",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:06:58.004248Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.91",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MSTO1 as Amber List (moderate evidence)",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:06:57.999066Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.91",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and not in Gene2Phenotype. There are at least 7 unrelated cases who are biallelic for variants in this gene and 1 family of patients (4 affected) who are monoallelic for variants in this gene.\r\n\r\nFor patients who are biallelic, there are 3 cases that reported pigmentary retinopathy. 5 out of 7 cases had growth impairments. For patients who are monoallelic there are no ophthalmological findings and growth impairment was only reported for 1 affected individual.\r\n\r\nAs not all affected individuals with biallelic variants showed a retinal disorder this gene has been given an Amber rating. Whether there is enough evidence to support a gene-disease association and for this gene to be rated Green should be reviewed by the GMS specialist group.",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-01-07T15:06:57.957040Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.91",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:53:14.577094Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.90",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MSTO1.",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:53:01.508523Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.90",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MSTO1 were set to 29339779; 28544275",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:19:07.757427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.89",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia MIM#617675 to Myopathy, mitochondrial, and ataxia, OMIM:617675",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:18:04.219622Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.88",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MMACHC as Amber List (moderate evidence)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:18:04.208759Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.88",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 cases in the literature; therefore, there is enough evidence to support a gene-disease association. This gene has been rated Amber and should be given Green status at the next review.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:18:04.133183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.88",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:16:57.222923Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: MMACHC.",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:16:49.517952Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.87",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400 to Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-01-07T14:16:19.527039Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.86",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MMACHC were set to 28481040",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:30:19.234831Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: This gene is associated with an relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.; to: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:19:58.533981Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: LAMA1: This gene is associated with an relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:18:46.179054Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: LAMA1.",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T13:18:04.748807Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.85",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: LAMA1 were set to 25105227",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T11:01:39.528685Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.84",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: LAMA1 were set to ",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:51:41.673779Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.83",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:51:35.114949Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.82",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA1 were changed from to Poretti-Boltshauser syndrome, OMIM:615960",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:49:51.222042Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.81",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:49:23.691088Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.80",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT81 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:49:00.878366Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.79",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: IFT81 were set to ",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:40:30.226913Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.78",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: IFT74 as Amber List (moderate evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:40:30.223238Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.78",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:40:30.194181Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.78",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:39:43.082745Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.77",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: IFT74.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:34:07.539314Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.77",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to ?Bardet-Biedl syndrome 20, OMIM:617119",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:32:05.244508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.76",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: IFT27 were changed from to ?Bardet-Biedl syndrome 19, OMIM:615996",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:31:33.486540Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.75",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: IFT27 were set to ",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:30:01.263826Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.74",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: IFT172: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough data to support a gene-disease association. This gene should be made Green at the next review (tagged with \"for-review\").\r\n\r\nThis gene is also Green on the following panels:\r\n- Ophthalmological ciliopathies (Version 1.13)\r\n- Skeletal ciliopathies (Version 1.4)\r\n- Rare multisystem ciliopathy disorders (Version 1.130)",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:25:49.583504Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.74",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: IFT172.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:22:31.922048Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.74",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:21:52.853738Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.73",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:21:24.555297Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.72",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:15:31.796896Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.71",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: GRN as Amber List (moderate evidence)",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:15:31.791853Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.71",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be made Green at the next review.",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:15:31.749276Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.71",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: grn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:14:43.329235Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.70",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: GRN.",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-06T16:24:54.555738Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.70",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRN was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-06T16:24:45.301835Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.69",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GRN were changed from Eye Disorders to Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; neuronal ceroid lipofuscinosis 1, MONDO:0013866",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-06T16:20:00.272617Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.68",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GRN were set to ",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2021-01-06T16:10:08.262352Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.67",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GNB3: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given Green status at the next review.",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-01-06T16:09:22.934910Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.67",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: GNB3.",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:45:16.958685Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.67",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:42:43.716242Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.66",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: GNB3 were set to ",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:42:05.315999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.65",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: GNB3 were changed from to Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:34:37.614910Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.64",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:33:04.600309Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.63",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CTNNA1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 26691986a also describes a mouse model that mimics the human phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:31:54.695942Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.63",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CTNNA1.",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:22:07.968059Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.63",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:21:57.383847Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.62",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, patterned, 2, OMIM:608970",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:21:25.987525Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.61",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CTNNA1 were set to ",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:20:30.596544Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.60",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CTC1 as Amber List (moderate evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:20:30.591600Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.60",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:20:30.553807Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.60",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:12:47.354084Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CTC1.",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:11:17.994696Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.59",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:06:34.440744Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CEP250: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-06T14:05:47.787993Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CEP250.",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:56:56.087347Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.58",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP250 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:56:10.710053Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.57",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:55:27.948634Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.56",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CEP250 were set to ",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:54:39.142954Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ARL13B as Amber List (moderate evidence)",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:54:39.139246Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been promoted to Amber and should be promoted to Green at the next review.",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:54:39.110532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.55",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: arl13b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:53:29.111770Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.54",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ARL13B.",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:47:01.263866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.54",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARL13B were changed from Eye Disorders to Joubert syndrome 8, OMIM:612291, MONDO:0012855",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:46:25.602049Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.53",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ARL13B were set to ",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:45:02.842569Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: AP3B2 as Red List (low evidence)",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:45:02.837348Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with an eye phenotype in Gene2Phenotype but not in OMIM. PMID:27889060 describes 1 out of 8 families where individuals who have variants in this gene had retinitis pigmentosa and mild optic disc pallor. This gene is also Amber on the Optic neuropathy panel (Version 2.29).\r\n\r\nTherefore, there is currently not enough evidence to support a gene-disease association, this gene has been given a Red rating.",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:45:02.790608Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.52",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ap3b2 has been classified as Red List (Low Evidence).",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:38:43.985371Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.51",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:19:02.056921Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ALPK1 as Amber List (moderate evidence)",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:19:02.037317Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; therefore, this gene has been given an Amber rating and should be promoted to Green at the next review.",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:19:01.910106Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.50",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: alpk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:17:40.050169Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ALPK1.",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-01-06T13:07:37.144382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.49",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK1 were changed from ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to ROSAH syndrome, OMIM:614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:53:47.545016Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.48",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CIB2 were set to ",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:52:05.471680Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CA4: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the external reviews and available evidence the rating of this gene should be re-reviewed by the GMS specialist group at the next review. Have tagged with \"for-review\".",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:50:50.382185Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CA4.",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:50:25.018237Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.47",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CA4 were set to 15563508; 17652713; 15090652",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:50:10.181950Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.46",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CA4 were changed from Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 17, 600852 to Retinitis pigmentosa 17, OMIM:600852, MONDO:0010945",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:45:02.162452Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AFG3L2: This gene is associated with a relevant phenotype in OMIM, but it is not associated with an eye phenotype in Gene2Phenotype. Based on the available information there is enough evidence to support a gene-disease association. This gene has been tagged with \"for-review\" and should be promoted to Green at the next review.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:43:16.156580Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AFG3L2.",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:38:49.462694Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:38:42.429019Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.44",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:38:37.145408Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.43",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from to Optic atrophy 12, OMIM:618977, MONDO:0033549",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:36:15.616583Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: ACBD5.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:36:12.399334Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ACBD5 as Amber List (moderate evidence)",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:36:12.390365Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. As there are only 2 reported cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:36:12.316455Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.42",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: acbd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:34:13.997437Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: Previous Publications comment:\r\nAbu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47 PMID: 23105016",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:34:13.982003Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.41",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: ACBD5 were set to Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb; 23(2):236-47 PMID: 23105016",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:32:22.061641Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previous Phenotypes comment: No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:32:22.034605Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.40",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ACBD5 were changed from No OMIM disease ID; novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement to Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T11:27:32.958910Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2021-01-06T08:48:09.331628Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.38",
"user_name": "Mehdi Montazer",
"item_type": "entity",
"text": "reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: https://doi.org/10.1038/s41431-020-0678-9; Phenotypes: kidney hypodysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:35:19.351865Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: ABCC6: Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and expert reviews, this gene should be promoted to Green at the next review.; Changed rating: GREEN",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:34:21.402523Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:34:11.332717Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:34:00.355831Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, OMIM:264800; inherited pseudoxanthoma elasticum, MONDO:0100091",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:26:41.171646Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: USP45 as Amber List (moderate evidence)",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:26:41.166129Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:26:41.122699Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: usp45 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:25:28.731755Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: USP45.",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-12-21T15:54:39.912040Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513 to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, OMIMM:618513",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:54:55.126531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; Dilated cardiomyopathy to Early retinal degeneration; cardiomyopathy",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:45:44.419467Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. Therefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. PMID: 29886034 did not look at the eyes of patients so therefore unsure if the affected individual with a variant in SLC6A6 has an eye phenotype.\r\n\r\nTherefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:35:12.926841Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Early retinal degeneration; Dilated cardiomyopathy",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:30:38.481113Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SLC6A6 as Amber List (moderate evidence)",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:30:38.477095Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. Therefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:30:38.456987Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:18:49.141240Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SLC6A6.",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:18:02.826017Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on publications: PMID: 17875433 slc6a6-/- mouse develop retinal degenerative disease.",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:18:02.781836Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:08:45.395852Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AHR: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene will remain Amber.",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:08:05.944444Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: AHR.",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:06:00.898691Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: AHR were set to ",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:05:55.094586Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345 to ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:05:47.281184Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AHR were changed from to ?Retinitis pigmentosa 85, OMIM:618345",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:05:24.612773Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHR was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-12-09T15:00:37.950646Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: C8orf37 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Retinitis pigmentosa 64, 614500Cone-rod dystrophy 16, 614500; Retinitis pigmentosa; Retinitis Pigmentosa, Recessive to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:50:01.793654Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: KIF3B as Amber List (moderate evidence)",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:50:01.781413Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: kif3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-12-09T14:49:55.478761Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: KIF3B was added\ngene: KIF3B was added to Retinal disorders. Sources: Expert list,Literature\nwatchlist tags were added to gene: KIF3B.\nMode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KIF3B were set to 32386558\nPhenotypes for gene: KIF3B were set to hepatic fibrosis; Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071; postaxial polydactyly\nReview for gene: KIF3B was set to AMBER\nAdded comment: New gene added by Zornitza Stark (Australian Genomics) to the Ophthalmological ciliopathies (Version 1.10). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given an Amber rating.\r\n\r\n\"Two unrelated families with a ciliopathy phenotype including RP and some functional data. Sources: Literature\r\nZornitza Stark (Australian Genomics), 3 Jun 2020\" \nSources: Expert list, Literature",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-12-02T15:21:42.054371Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-12-02T15:21:28.487409Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.22",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: SLC38A8 were set to 24290379; 24045842; 15466012; 24290379; 24045842",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-12-02T15:21:10.873097Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: SLC38A8: Rating: ; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:08:00.175602Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: DRAM2 as Amber List (moderate evidence)",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:08:00.172052Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:08:00.144402Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: dram2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-10-20T15:07:52.481766Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: DRAM2.",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-10-15T09:49:52.695131Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to 18394578; 14409555\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700\nReview for gene: ZFYVE26 was set to GREEN\ngene: ZFYVE26 was marked as current diagnostic\nAdded comment: Retinal degeneration can be a feature of this condition. \nSources: Expert list",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2020-10-15T09:48:04.889199Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS. Note this gene has discordant ratings on multiple panels.; to: Four families reported, with different ciliopathy phenotypes including BBS, OFD and syndromic retinopathy.",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T09:47:30.711646Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDPCP: Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T09:25:10.852441Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-10-15T09:15:22.373264Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: 11006213, 23563732, 27079236; Phenotypes: Cone-rod dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2020-10-15T09:12:34.592562Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22279524, 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-10-15T08:11:24.200726Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-10-15T08:02:33.549866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBB4B was added\ngene: TUBB4B was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4B were set to 29198720\nPhenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness\tMIM#617879\nReview for gene: TUBB4B was set to GREEN\ngene: TUBB4B was marked as current diagnostic\nAdded comment: At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth. \nSources: Expert list",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-10-15T07:56:23.146815Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The disorders associated with this gene likely represent a spectrum. RP/retinal dysfunction reported in more than 3 families, supportive functional data.; to: The disorders associated with this gene likely represent a spectrum rather than distinct conditions, therefore gene-disease association evidence assessed across publications. RP/retinal dysfunction reported in more than 3 families, supportive functional data.",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-10-15T07:55:49.507202Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26494905, 28390992, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-10-15T02:50:46.286604Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-10-15T02:44:56.363173Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17660820; Phenotypes: Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-10-15T02:37:18.159309Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAF3IP1 was added\ngene: TRAF3IP1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAF3IP1 were set to 26487268\nPhenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9, MIM#616629\nReview for gene: TRAF3IP1 was set to GREEN\nAdded comment: At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration. \nSources: Expert list",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2020-10-15T02:35:17.514468Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM231 were set to 23012439; 27449316\nPhenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970\nReview for gene: TMEM231 was set to GREEN\nAdded comment: Three unrelated families reported with retinopathy as a feature of the condition. \nSources: Expert list",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-10-15T02:33:15.585044Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 32687549, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-10-15T00:23:24.576417Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SSBP1 was added\ngene: SSBP1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240\nPhenotypes for gene: SSBP1 were set to Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510\nReview for gene: SSBP1 was set to GREEN\nAdded comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.\r\n\r\nConsider including here as well as the optic atrophy panel due to retinal features. \nSources: Expert list",
"entity_name": "SSBP1",
"entity_type": "gene"
},
{
"created": "2020-10-14T00:03:15.279304Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIMS2 was added\ngene: RIMS2 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIMS2 were set to 32470375\nPhenotypes for gene: RIMS2 were set to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970\nReview for gene: RIMS2 was set to GREEN\ngene: RIMS2 was marked as current diagnostic\nAdded comment: Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families. \nSources: Expert list",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-10-13T23:07:09.078436Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDH11: Rating: RED; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:52:13.001710Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29258872, 28973654, 26507665, 30710461; Phenotypes: Macular dystrophy, North Carolina type MIM#136550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:44:37.109941Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613; Phenotypes: Retinitis pigmentosa 76, MIM#617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:37:22.310082Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24355708, 25033069; Phenotypes: Boucher-Neuhauser syndrome, MIM#215470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:29:15.710147Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:23:55.474323Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX6 were set to 27302843; 32866347; 31884617; 29676688; 26387595\nPhenotypes for gene: PEX6 were set to Heimler syndrome 2, MIM# 616617\nReview for gene: PEX6 was set to GREEN\ngene: PEX6 was marked as current diagnostic\nAdded comment: Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum, is a rare autosomal recessive disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities, and retinitis pigmentosa. More than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-10-13T06:36:03.260605Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM# 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-10-13T06:31:03.932259Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:39:00.290713Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:38:46.053591Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: TINF2: Changed publications: 18252230, 21477109, 28095086, 28866069, 29749240, 30478948",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:23:13.481382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TINF2 as Amber List (moderate evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:23:13.475906Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:23:13.446819Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:22:26.405721Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. \nSources: Literature; to: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings.\r\n\r\nRetinopathy can be the first presenting feature in patients with Revesz syndrome and so inclusion of TINF2 on this panel is likely to be of benefit.\r\nSources: Literature",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T12:21:43.119127Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Retinal disorders. Sources: Literature\nfor-review tags were added to gene: TINF2.\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TINF2 were set to 18252230; 21477109; 25067791; 28095086; 28866069; 29749240; 30478948\nPhenotypes for gene: TINF2 were set to Revesz syndrome, 268130\nReview for gene: TINF2 was set to GREEN\nAdded comment: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. \nSources: Literature",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T02:17:20.649943Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T02:09:13.489835Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2020-10-12T02:01:31.549773Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 29339779; 28544275\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675\nReview for gene: MSTO1 was set to GREEN\nAdded comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants. \nSources: Expert list",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-10-12T01:56:59.396254Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 28481040\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400\nReview for gene: MMACHC was set to GREEN\nAdded comment: Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases. \nSources: Expert list",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2020-10-12T01:42:43.666645Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2020-10-12T00:04:21.875845Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 28460050, 26275418, 27666822, 32783357; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2020-10-11T23:28:37.282408Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 27486776; 32144365\nPhenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119\nReview for gene: IFT74 was set to GREEN\ngene: IFT74 was marked as current diagnostic\nAdded comment: Two families reported with BBS, supportive zebrafish model. \nSources: Expert list",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-10-11T23:15:13.939796Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183, 26763875, 25443296; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-10-11T23:12:49.032005Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 25168386, 29659833; Phenotypes: Retinitis pigmentosa 71, MIM# 616394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2020-10-11T04:07:40.233620Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa.; to: Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa.\r\n\r\nHowever, also note PMID 30778173, where other mono-allelic variants have been linked to a neurodevelopmental disorder which includes visual impairment, and for this reason Green rating on this panel may still be appropriate.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-10-11T04:06:52.869330Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HK1: Changed rating: GREEN; Changed publications: 25316723, 25190649, 31621442, 32814480, 30778173",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-10-11T04:04:22.435682Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316723, 25190649, 31621442, 32814480; Phenotypes: Retinitis pigmentosa 79, MIM# 617460; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-10-11T03:50:42.821614Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HARS: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Usher syndrome type 3B, MIM# 614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-10-11T03:33:35.130945Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31855245, 28404863, 30922528; Phenotypes: Ceroid lipofuscinosis, neuronal, 11, OMIM #614706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-10-11T03:15:44.573673Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27063057, 17065478; Phenotypes: Night blindness, congenital stationary, type 1H, MIM# 617024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2020-10-10T07:11:32.031793Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSF was added\ngene: CTSF was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362\nReview for gene: CTSF was set to GREEN\nAdded comment: Retinal degeneration is a feature. \nSources: Expert list",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-10-10T07:10:01.115515Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26691986; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2020-10-10T07:05:10.608757Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTC1 were set to 22267198\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts MIM#612199\nReview for gene: CTC1 was set to GREEN\ngene: CTC1 was marked as current diagnostic\nAdded comment: Retinopathy is a feature of the condition. At least 10 families reported. \nSources: Expert list",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-10-10T06:57:38.491732Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2020-10-10T06:55:09.437693Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2020-10-10T06:44:53.056449Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA4: Rating: RED; Mode of pathogenicity: None; Publications: 15563508, 15090652, 17652713, 16260723; Phenotypes: Retinitis pigmentosa 17, MIM# 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:31:00.291647Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 30573647, 25138100, 29255182; Phenotypes: Joubert syndrome 8 MIM#612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:29:24.480456Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3B2 was added\ngene: AP3B2 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3B2 were set to 27889060\nPhenotypes for gene: AP3B2 were set to Early-onset epileptic encephalopathy with optic atrophy\nReview for gene: AP3B2 was set to GREEN\nAdded comment: 8 different families reported with EE - poor vision reported in all, specifically optic pallor 4/6, and retinal pigment changes in 2/6. \nSources: Expert list",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:26:59.493111Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALPK1 was added\ngene: ALPK1 was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALPK1 were set to 30967659; 31939038\nPhenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache\nReview for gene: ALPK1 was set to GREEN\ngene: ALPK1 was marked as current diagnostic\nAdded comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met). Pancytopaenia and recurrent infections present in some. \nSources: Expert list",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:20:20.295805Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403, 32219868, 32600459, 32548275; Phenotypes: Optic atrophy 12, MIM# 618977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:15:51.662290Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation\r\n\r\nPMID: 27799409: 1 individual who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation\r\n\r\nPMID: 23105016: 1 family retinal dystrophy.; to: 2 families reported and supporting in vitro functional assays demonstrating ACBD5 deficiency leading to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation\r\n\r\nPMID: 27799409: 1 individual who presented with progressive leukodystrophy, syndromic cleft palate, ataxia and retinal dystrophy. Functional assay supports ACBD5 deficiency leads to accumulation of very long-chain fatty acids due to impaired peroxisomal β-oxidation\r\n\r\nPMID: 23105016: 1 family with retinal dystrophy.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:15:40.198371Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-10-10T05:12:31.645114Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-10-07T20:26:04.295935Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32036094, 8202715, 30630813, 24618324, 20300562, 32716032; Phenotypes: Retinitis pigmentosa 7, digenic form, MIM# 608133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:21:38.555145Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: PRPH2",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:17:59.909565Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: ROM1 were set to ",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:16:25.172342Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.16",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W). \r\n\r\nReducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But \r\nreducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.; to: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W). \r\n\r\nReducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:06.467905Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.16",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: ROM1: Rating: ; Mode of pathogenicity: None; Publications: 32716032; Phenotypes: retinal degeneration; Mode of inheritance: None",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:43:32.651900Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726989, 31896775; Phenotypes: Retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:38:32.617394Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:38:23.541936Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IFT27 as Amber List (moderate evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:38:23.538212Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: At least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review.",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:38:23.514278Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:36:59.822397Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: IFT27.",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:35:35.818037Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 29704304, 30761183, 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:03:46.860705Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-30T11:33:34.814441Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: PMID: 32242237 - Xu et al 2020 - created two independent Impg2 knockout (KO) mouse models using the CRISPR/Cas9 technique. Impg2 ablation in mice recapitulated the retinitis pigmentosa phenotypes of patients, including an attenuated electroretinogram (ERG) response and the progressive degeneration of photoreceptors. The study looks at the effects of Impg2 KO in retinas in detail and provides novel models for mechanistic investigations and development of therapies.; to: Additional evidence for association with retinitis pigmentosa - PMID: 32242237 - Xu et al 2020 - created two independent Impg2 knockout (KO) mouse models using the CRISPR/Cas9 technique. Impg2 ablation in mice recapitulated the retinitis pigmentosa phenotypes of patients, including an attenuated electroretinogram (ERG) response and the progressive degeneration of photoreceptors. The study looks at the effects of Impg2 KO in retinas in detail and provides novel models for mechanistic investigations and development of therapies.",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T11:31:29.150308Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: IMPG2: Rating: ; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-07-08T12:53:41.423996Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag ensembl_ids_known_missing tag was added to gene: EVR3.",
"entity_name": "EVR3",
"entity_type": "gene"
},
{
"created": "2020-06-13T07:56:49.622736Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: DYNC2H1 was added\ngene: DYNC2H1 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nAdded comment: ESHG 2020 - Presentation/abstract - C06.5 - DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration - Vig et al. Genome and exome sequencing were performed for 5 unrelated cases of inherited retinal disease with no identified variant. Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779 A>T; V3, g.103112272 C>G; V4, g.103070104 A>C) and one previously reported (V5, g.103339363 T>G) were identified. The variants were either hypomorphic or affect a retina-predominant transcript. First report of DYNC2H1 variants, causing non-syndromic IRD. 3 of the families from the UK shared the same homozygous variant (V3) - possible founder mutation in South Asias in the UK.\r\nNote this gene produces a dynein-2 protein that is found in cilia.\r\nNo publication relating to this work has been found in PubMed at this time. \nSources: Literature",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2020-06-02T10:52:53.985675Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Skewed X-inactivation tag was added to gene: DMD.",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:41:50.469869Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:19:56.970928Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DRAM2 as Green List (high evidence)",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:19:56.967508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Amber to Green based on expert review.",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:19:56.950036Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dram2 has been classified as Green List (High Evidence).",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:19:38.212617Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DRAM2 were changed from to Cone-rod dystrophy 21, 616502; macular dystrophy; cone-dystrophy",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:19:07.435446Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DRAM2 were set to ",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-05-05T15:19:00.553460Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: DRAM2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:01:43.278420Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A6 was added\ngene: SLC6A6 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A6 were set to 31345061; 31903486; 29886034\nPhenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy\nReview for gene: SLC6A6 was set to AMBER\nAdded comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034). \nSources: Literature",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-23T03:32:51.473934Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP45 was added\ngene: USP45 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP45 were set to 30573563\nPhenotypes for gene: USP45 were set to Lebers congenital amaurosis; retinal dystrophy\nReview for gene: USP45 was set to GREEN\ngene: USP45 was marked as current diagnostic\nAdded comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies recapitulate retinal phenotype \nSources: Literature",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-03-30T09:45:35.597898Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.8",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PSEUDOXANTHOMA ELASTICUM (PXE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-02-25T11:37:58.870199Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.8",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-20T10:32:00.290035Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.6",
"user_name": "Andrew Webster",
"item_type": "entity",
"text": "reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 26720460, 31394102; Phenotypes: macular dystrophy, cone-dystrophy, cone-rod dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2020-01-13T16:49:34.262626Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUB",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2020-01-13T16:49:11.574842Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: TUB.",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2020-01-13T16:48:39.568740Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: ABCA4.",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.761044Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.739453Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.664027Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.639419Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.556377Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.535523Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SPP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.451000Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.365929Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SAMD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAMD11",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.346455Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.261812Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.241695Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.162803Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.142087Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.063004Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:21.042152Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.962013Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.939678Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.859340Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: OPN1SW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.838566Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.757738Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.737690Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.655325Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.634873Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.554009Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.468446Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MAPKAPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAPKAPK3",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.448783Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.363532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.343752Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.263677Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.243859Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.159799Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:20.139721Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: EXOSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.751274Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ESPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.668891Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.649770Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DRAM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.564893Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.544445Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CTNNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.483768Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CLUAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLUAP1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.459447Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.378647Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CEP250: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.348001Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.257987Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CCT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.237922Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.160301Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.135395Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ASRGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ASRGL1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:19.062137Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:18.978203Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:18.958715Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:18.865267Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:18.845886Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:10:18.792185Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:02:40.708168Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: REEP6 as Green List (high evidence)",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:02:40.696398Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: reep6 has been classified as Green List (High Evidence).",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:20.149011Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TUBGCP6 was added\ngene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: TUBGCP6 was set to ",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:19.943693Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: TUBGCP4 was set to ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:19.741751Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: TTPA was set to ",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:19.539748Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TRNT1 was added\ngene: TRNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: TRNT1 was set to ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:19.337985Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: TREX1 was set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:18.841111Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SPP2 was added\ngene: SPP2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: SPP2 was set to ",
"entity_name": "SPP2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:18.638829Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SLC25A46 was added\ngene: SLC25A46 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: SLC25A46 was set to ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:18.437165Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SAMD11 was added\ngene: SAMD11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: SAMD11 was set to ",
"entity_name": "SAMD11",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:18.167705Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: RTN4IP1 was set to ",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:17.938243Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to REEP6.\nSource RetNet was added to REEP6.\nSource NHS GMS was added to REEP6.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:17.658992Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: RDH11 was added\ngene: RDH11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: RDH11 was set to ",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:17.453762Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PRDM13 was added\ngene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: PRDM13 was set to ",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:17.244099Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: POMGNT1 was set to ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:17.039706Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: POC5 was set to ",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:16.837974Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: PNPLA6 was set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:16.637016Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PLK4 was added\ngene: PLK4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: PLK4 was set to ",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:16.436310Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: PGK1 was set to ",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:16.167114Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PAX2 was added\ngene: PAX2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: PAX2 was set to ",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:15.966642Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: OPN1SW was added\ngene: OPN1SW was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: OPN1SW was set to ",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:15.768301Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: NEUROD1 was added\ngene: NEUROD1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: NEUROD1 was set to ",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:15.566176Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: NBAS was set to ",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:15.359255Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MT-TS2 was added\ngene: MT-TS2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL",
"entity_name": "MT-TS2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:15.158924Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MT-TP was added\ngene: MT-TP was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:14.954354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MT-TH was added\ngene: MT-TH was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL",
"entity_name": "MT-TH",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:14.757302Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MIR204 was added\ngene: MIR204 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: MIR204 was set to ",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:14.261894Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MAPKAPK3 was added\ngene: MAPKAPK3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: MAPKAPK3 was set to ",
"entity_name": "MAPKAPK3",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:14.059399Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: LAMA1 was set to ",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:13.854330Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: JAG1 was set to ",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:13.654281Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IFT81 was added\ngene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: IFT81 was set to ",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:13.454771Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IFT27 was added\ngene: IFT27 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: IFT27 was set to ",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:13.251515Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: IFT172 was set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:13.049212Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GNB3 was added\ngene: GNB3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: GNB3 was set to ",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:12.849578Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: EXOSC2 was added\ngene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: EXOSC2 was set to ",
"entity_name": "EXOSC2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:12.649999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ESPN was added\ngene: ESPN was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ESPN was set to ",
"entity_name": "ESPN",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:12.448734Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ELOVL1 was added\ngene: ELOVL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ELOVL1 was set to ",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:12.253272Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DRAM2 was added\ngene: DRAM2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: DRAM2 was set to ",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:12.052941Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: DMD was set to ",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:11.857427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CTNNA1 was added\ngene: CTNNA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: CTNNA1 was set to ",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:11.654324Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CLUAP1 was added\ngene: CLUAP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: CLUAP1 was set to ",
"entity_name": "CLUAP1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:11.454170Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CLCC1 was added\ngene: CLCC1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: CLCC1 was set to ",
"entity_name": "CLCC1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:11.257974Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CEP250 was added\ngene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: CEP250 was set to ",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:11.057297Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CEP19 was added\ngene: CEP19 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: CEP19 was set to ",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:10.864922Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CCT2 was added\ngene: CCT2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: CCT2 was set to ",
"entity_name": "CCT2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:10.667571Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: C12orf65 was set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:10.534772Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ATXN7 was added\ngene: ATXN7 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ATXN7 was set to ",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:10.268405Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ASRGL1 was added\ngene: ASRGL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ASRGL1 was set to ",
"entity_name": "ASRGL1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:10.134120Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ARSG was added\ngene: ARSG was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ARSG was set to ",
"entity_name": "ARSG",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:09.934906Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ARL3 was added\ngene: ARL3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ARL3 was set to ",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:09.737241Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: AHR was added\ngene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: AHR was set to ",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:09.538289Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: AFG3L2 was set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:09.027090Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ADIPOR1 was added\ngene: ADIPOR1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ADIPOR1 was set to ",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2019-12-27T09:01:08.759539Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS\nMode of inheritance for gene: ABCC6 was set to ",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2019-11-19T11:10:23.555819Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.1",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-19T11:09:44.305701Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "2.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-19T10:46:59.377469Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.228",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI has been updated from Biallelic to BOTH monoallelic and biallelic based on PMID: 31505163, which describes both autosomal dominant and recessive retinal phenotypes.",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-11-19T10:46:59.354935Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.228",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-11-19T10:46:22.264382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.227",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RDH12 were set to ",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-11-19T10:31:03.614903Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.226",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: NMNAT1 were set to ",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2019-11-19T10:04:06.297087Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.225",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from Genetic Retinal Degeneration Conditions; Joubert syndrome 21 to Genetic Retinal Degeneration Conditions; Joubert syndrome 21,615636",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2019-11-19T10:01:52.703159Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.224",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from Knobloch Syndrome Type I to Knobloch Syndrome Type I, 267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:58:10.296190Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.223",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CNGA3 were changed from Achromatopsia; Achromatopsia-2; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Achromatopsia; Achromatopsia-2, 216900; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:45:05.620484Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.222",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CLRN1 were changed from Eye Disorders; ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa to Eye Disorders; ?Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:39:15.144723Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.221",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:38:55.761875Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.220",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CDHR1 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Recessive; Cone-rod dystrophy 15, 613660 to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-Rod Dystrophy, Recessive; Cone-rod dystrophy 15, 613660; Retinitis pigmentosa 65, 613660",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:37:24.304553Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.219",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; Eye Disorders to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284; Eye Disorders",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:20:53.763757Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.218",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 9, 615986",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:20:29.886998Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.217",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 7, 615984",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:20:09.869881Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.216",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from Eye Disorders; Bardet-Biedl syndrome 5 to Eye Disorders; Bardet-Biedl syndrome 5, 615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:19:54.074536Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.215",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from Eye Disorders; Bardet-Biedl syndrome 4 to Eye Disorders; Bardet-Biedl syndrome 4, 615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:19:39.238888Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.214",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from Eye Disorders; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 to Eye Disorders; Bardet-Biedl syndrome 2, 615981; Retinitis pigmentosa 74, 616562",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:19:10.502168Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.213",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS12 were changed from Eye Disorders; Bardet-Biedl syndrome 12 to Eye Disorders; Bardet-Biedl syndrome 12, 615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:18:55.969531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.212",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa to Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:18:23.591034Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.211",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS10 were changed from Eye Disorders; Bardet-Biedl syndrome 10 to Eye Disorders; Bardet-Biedl syndrome 10, 615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:17:21.148457Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.210",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ATOH7 were changed from Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus to Persistent hyperplastic primary vitreous, autosomal recessive, 221900; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:16:42.215645Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.209",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ATF6 were changed from Achromatopsia 7 to Achromatopsia 7, 616517",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:14:50.241702Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.208",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from Eye Disorders; Alstrom syndrome to Eye Disorders; Alstrom syndrome, 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:13:48.683953Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.207",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from Eye Disorders; Joubert syndrome 17 to Eye Disorders; Joubert syndrome 3, 608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:12:48.279868Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.206",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa; Retinitis pigmentosa 75 617023 to Retinitis pigmentosa 75, 617023",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:12:28.507599Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.205",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS18 were changed from Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus to Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458",
"entity_name": "ADAMTS18",
"entity_type": "gene"
},
{
"created": "2019-11-19T09:11:24.304032Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.204",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C; Eye Disorders to Usher syndrome, type 2C, 605472; Eye Disorders; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2019-10-30T14:32:52.879035Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.203",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: KIZ as Green List (high evidence)",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-30T14:32:52.876055Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.203",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Mohammed Abdallah (Divsion of Human Genetics, university of Cape Town). The gene was previously classified as non-coding because of problems with Ensembl grch37 release; however, that has been fixed now and it is an actual gene.",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-30T14:32:52.854016Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.203",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: kiz has been classified as Green List (High Evidence).",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-29T11:45:25.467567Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.202",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: KIZ were changed from Retinitis pigmentosa 69 to Retinitis pigmentosa 69, 615780; HP:0000556; HP:0000510",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-29T11:44:44.713313Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.201",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIZ was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-29T11:44:27.339416Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.200",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KIZ were set to ",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-09T12:11:14.051293Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.199",
"user_name": "Mohammed Abdallah",
"item_type": "entity",
"text": "changed review comment from: Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, but by consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we could see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.; to: Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, However, when consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we can clearly see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-09T12:10:01.930269Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.199",
"user_name": "Mohammed Abdallah",
"item_type": "entity",
"text": "reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID ( 31556760, 29057815, 28837078, 24680887); Phenotypes: Phenotypes (HP:0000556, HP:0000510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-10-08T09:22:18.506520Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.199",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: IKBKG is associated with IP as commented by Robert Henderson GOSH. IP is XLD in OMIM",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-08T09:22:18.486068Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.199",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-08T09:21:29.293783Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.198",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: IKBKG is associated with IP as commented by Robert Henderson GOSH",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-08T09:21:29.273734Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.198",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:27:17.457834Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.197",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:27:09.308624Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.196",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:27:02.794693Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.195",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: IKBKG as Green List (high evidence)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:27:02.788259Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.195",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:26:45.390028Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.194",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:23:10.876939Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.194",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:23:00.326322Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.193",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIRE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:22:51.451228Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.192",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: AIRE as Green List (high evidence)",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:22:51.439106Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.192",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:22:32.611225Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.191",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:21:16.785886Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.191",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:20:52.732728Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.190",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 2, 204500",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:20:35.091049Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.189",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:20:30.117943Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.188",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: TPP1 as Green List (high evidence)",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:20:30.107337Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.188",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:20:20.693517Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.187",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:18:38.548737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.187",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM8A were changed from Eye Disorders to Eye Disorders; Mohr-Tranebjaerg syndrome, 304700",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:18:29.321486Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.186",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:18:21.081634Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.185",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: TIMM8A as Green List (high evidence)",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:18:21.071399Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.185",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: timm8a has been classified as Green List (High Evidence).",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:18:07.591890Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.184",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:16:02.467923Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.184",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: PPT1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 1, 256730",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:15:52.038362Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.183",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:15:46.581080Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.182",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: PPT1 as Green List (high evidence)",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:15:46.570569Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.182",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Green List (High Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:15:25.667263Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.181",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:14:08.032977Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.181",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from Eye Disorders to Eye Disorders; Linear skin defects with multiple congenital anomalies 1, 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:13:58.420774Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.180",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:13:52.244556Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.179",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: HCCS as Green List (high evidence)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:13:52.233809Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.179",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: hccs has been classified as Green List (High Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:13:31.567040Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.178",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:10:10.676317Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.178",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: CTSD were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 10, 610127",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:10:01.465302Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.177",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:09:55.726101Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.176",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CTSD as Green List (high evidence)",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:09:55.713644Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.176",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:07:20.724161Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: COL18A1 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: COL18A1 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:07:03.815909Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: CLN5 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN5 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:06:52.487146Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: CLN6 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN6 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:06:39.775425Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: CLN8 rated as Green and with a relevant phenotype following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CLN8 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:05:37.606392Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "changed review comment from: CTSD rated as Green and with a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.; to: CTSD rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:05:10.716386Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:02:37.733739Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: COL18A1 as Green List (high evidence)",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:02:37.722694Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.175",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Green List (High Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:02:04.790474Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.174",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-10-07T16:00:12.934372Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.174",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: CLN8 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 8, 600143",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:59:57.852885Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.173",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:59:51.752891Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.172",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CLN8 as Green List (high evidence)",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:59:51.742096Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.172",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:59:33.260865Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.171",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:57:34.789120Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.171",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 6 601780",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:55:59.311025Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.170",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:55:52.957659Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.169",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CLN6 as Green List (high evidence)",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:55:52.946597Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.169",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:55:37.525761Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.168",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:52:50.923297Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.168",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CLN5 as Green List (high evidence)",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:52:50.912680Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.168",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:52:08.664586Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.167",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:51:31.034422Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.166",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Phenotypes for gene: CLN5 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-10-07T15:50:50.949375Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.165",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-09-24T09:37:39.895373Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.165",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MVK as Amber List (moderate evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-24T09:37:39.890448Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.165",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviewer. MVK is not associated with an eye phenotype in OMIM or Gene2Phenotype.",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-24T09:37:39.853648Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.165",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mvk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-24T09:37:11.018536Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.164",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MVK were set to 24084495; 12563048",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-24T09:34:01.754073Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.163",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MVK were set to ",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-24T09:33:40.122561Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.162",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria to Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-20T13:11:34.278234Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.161",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: Non-syndromic RP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-09-06T14:46:48.714282Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.161",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: HARS.",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2019-09-06T14:46:42.492700Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.161",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HARS",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:56:37.178645Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.161",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: OPN1MW as Green List (high evidence)",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:56:37.175747Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.161",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted to green based on expert review by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:56:37.154447Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.161",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Green List (High Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.960656Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.931208Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.907927Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.883283Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.860563Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.837154Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.813652Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.790072Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.767021Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.743627Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.631796Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.609213Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.586171Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.562349Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.539279Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.515545Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:52:49.490907Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.160",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:43:49.112290Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.185058Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Simon Ramsden",
"item_type": "entity",
"text": "reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.167054Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Robert Henderson",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.148799Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Robert Henderson",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.130156Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZNF513",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.107554Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.089363Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.066962Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: WASF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WASF3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.044486Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:53.021453Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VAX1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.999198Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.974624Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: UBAP1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.947780Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.928559Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.910707Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.888069Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.865674Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.843417Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.821145Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.799020Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.776900Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TEX28: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TEX28",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.754861Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TEAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.732836Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.710618Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.688241Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.666250Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.643612Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.621304Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.598516Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SMOC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMOC1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.575274Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.552095Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.529709Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.507551Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.485546Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.463221Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.440752Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RGS9BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.418299Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.395531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRTFDC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRTFDC1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.372993Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.350717Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: POMZP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POMZP3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.328240Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PODNL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PODNL1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.306213Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PLD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLD4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.283767Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PITX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.261162Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.238457Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.215883Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDZD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.193372Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.175423Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDAP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.153075Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.134862Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: P3H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.112542Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OR2M7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OR2M7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.094017Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.075028Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.056563Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.037828Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.019333Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:52.001045Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NUMB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NUMB",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.982597Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.957205Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NEK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.931265Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NAALADL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NAALADL1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.908401Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.885904Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.863257Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.840719Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.818057Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-ND6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.795160Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MT-ND4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.772244Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.749856Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.727247Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.704576Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.682252Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KIZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.659597Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.636817Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.614408Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.591727Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ITIH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITIH2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.569093Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.545639Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.522634Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.499747Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.477430Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.454813Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.432245Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.409750Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.387354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.364771Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FUT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FUT5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.342104Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.318807Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.296226Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.273427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.250479Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FOXI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXI2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.228012Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.205198Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.182253Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.159327Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FAM71A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FAM71A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.136175Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FAM57B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.113470Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: EMC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.090954Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: DTHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DTHD1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.068251Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.044305Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:51.021408Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.997865Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.978629Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.951816Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CROCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CROCC",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.926984Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.904302Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.881740Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.858595Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.835690Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.813122Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.790182Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.767713Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.745342Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.722536Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.699282Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.676480Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CCZ1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CCZ1B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.653322Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.630601Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.607335Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.583268Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.558829Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BCOR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.535211Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.511965Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.489297Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.467039Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.444669Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.422339Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: AMN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.399971Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.377762Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.355590Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.333289Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.309139Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "commented on gene: SEMA4A: p.Arg713Gln is too common to cause adCORD. The other missense vriants reported in the paper are rare, although the gene has never been convincingly validated - remove?",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.290648Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RP1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.268090Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.245609Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.222571Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.199898Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Robert Henderson",
"item_type": "entity",
"text": "reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.181254Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Simon Ramsden",
"item_type": "entity",
"text": "reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.162828Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.144780Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RCBTB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.121917Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.103589Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.085009Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.061988Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.038068Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:50.019048Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.997798Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.979544Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ZNF408",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.958922Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.934213Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.914491Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.894867Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VCAN",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.876594Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.858515Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.840271Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.821707Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.803658Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.785209Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.766130Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.747957Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.729871Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.711844Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TOPORS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.693839Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.675611Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.657350Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.639227Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.620761Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.601896Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.583518Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.564804Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SCAPER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.546921Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.528572Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.509845Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.491440Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.473089Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.453880Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.435125Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RP9",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.415625Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.396708Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.377844Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.359344Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.340895Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.322068Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.303942Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.285228Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.266941Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.248265Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.229827Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.211087Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.192825Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.174630Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.156000Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.137406Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.119156Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPF4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.100716Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.082186Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRPF3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.064089Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.045799Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.026793Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:49.006689Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.987016Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.954015Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.933275Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.913581Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.895053Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.876025Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.857244Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.838807Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.820209Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.802143Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.783611Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.764872Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.746029Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.727505Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.709382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.690563Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.671449Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.652245Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.633148Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.614434Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.595674Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.577282Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.557559Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.538382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.520044Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.500040Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.479421Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.459961Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.440931Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.422714Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.403822Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.384814Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.366202Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.347445Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.328783Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.310119Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.292009Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.273544Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.255215Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.236709Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.218234Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.199817Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.124317Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IDH3B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.105916Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.087358Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.069018Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.050377Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.031370Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GUCA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:48.012607Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.993933Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.975477Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.953900Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.934075Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.914675Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.896532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.878177Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.859767Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.841374Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.822812Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.804416Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.786140Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.767690Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.749499Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.730620Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.712024Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.693577Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.674911Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.655722Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.636698Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.617934Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.599732Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.580439Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.562118Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.543720Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.525136Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.506565Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.488305Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.469653Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.451115Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.432844Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.413460Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.394747Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.376080Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.357737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.339532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.320808Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.301751Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.283223Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.264886Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CAPN5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.246675Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.227852Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.209531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.191187Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.172622Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.154197Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.135812Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.117493Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.098854Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.080235Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.061623Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.043666Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.025629Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:47.007354Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.988514Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.969360Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.948272Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.926769Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.907481Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.889467Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.870924Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.851911Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.833014Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.813833Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.794001Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.775216Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS18",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.756324Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.737325Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.718321Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:12:46.698595Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.159",
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:01:30.978916Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: GNPTAB was added\ngene: GNPTAB was added to Retinal disorders. Sources: NHS GMS\nMode of inheritance for gene: GNPTAB was set to ",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:01:30.910641Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to Retinal disorders. Sources: NHS GMS\nMode of inheritance for gene: AIRE was set to ",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:01:30.845688Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Retinal disorders. Sources: NHS GMS\nMode of inheritance for gene: IKBKG was set to ",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:01:30.723857Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SEMA4A.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:01:30.590185Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RGR.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2019-08-30T14:01:30.452005Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.158",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Amber was added to CA4.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2019-08-29T15:46:19.223462Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.157",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed from monoallelic to biallelic as monoallelic is associated with Occult macular dystrophy and biallelic is associated with retinitis pigmentosa.",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-08-29T15:46:19.205307Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.157",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:31:45.489574Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.156",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy, 303700",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:31:31.871805Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.155",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPN1MW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:30:43.798917Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.154",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: OPN1LW were set to ",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:29:17.113319Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.153",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: OPN1LW as Green List (high evidence)",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:29:17.110278Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.153",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases reported on OMIM; therefore, there is enough evidence to promote this gene to green status.",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:29:17.086737Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.153",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Green List (High Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:27:43.002935Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.152",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy, 303700",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-29T13:27:17.756283Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.151",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPN1LW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-08-29T12:15:24.513458Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.150",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to 15629837",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-08-29T12:15:13.296729Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.149",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "edited their review of gene: PDE6H: Added comment: PMID: 22901948 reported on 3 patients from 2 unrelated families (Dutch and Belgium) who have incomplete achromatopsia who also have the same variant in PDE6H (missense variant the causes a premature termination). Haplotype analysis for this region suggested that the variant may be from a founder effect.\r\n\r\nPMID: 25739440 reported on a Pde6h knockout mouse model. However, the model failed to replicate the human phenotype as it appears that the mouse showed normal retinal tissue. The authors suggest \"species-to-species differences in the vulnerability of biochemical and neurosensory pathways of the visual signal transduction system\".\r\n\r\nTaken together with my previous review, there is still currently not enough evidence to promote this gene to green status.; Changed rating: AMBER; Changed publications: 22901948, 25739440; Changed phenotypes: Achromatopsia 6, 610024",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-08-05T15:02:21.600595Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.149",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: REEP6 as Green List (high evidence)",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-08-05T15:02:21.597766Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.149",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP.\r\n\r\nThis gene has been given green status based on the evidence provided by the reviewer.",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-08-05T15:02:21.570069Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.149",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: reep6 has been classified as Green List (High Evidence).",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-08-02T13:51:27.956685Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.148",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: IDH3A as Green List (high evidence)",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2019-08-02T13:51:27.948853Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.148",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: idh3a has been classified as Green List (High Evidence).",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2019-08-02T13:51:19.047033Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.147",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IDH3A was added\ngene: IDH3A was added to Retinal disorders. Sources: Expert list\nMode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDH3A were set to 28412069; 30478029\nPhenotypes for gene: IDH3A were set to Retinitis Pigmentosa; Pseudocoloboma\nReview for gene: IDH3A was set to GREEN\nAdded comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status. \nSources: Expert list",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2019-07-31T15:42:36.146601Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.146",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-18T09:01:05.284516Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.145",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17345604; Phenotypes: LEBER CONGENITAL AMAUROSIS 10, LCA10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-07-10T16:04:59.468216Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.145",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: REEP6 were changed from retinitis pigmentosa to retinitis pigmentosa; Retinitis pigmentosa 77, 617304",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-07-10T16:04:32.797781Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.144",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-07-10T15:16:03.075848Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.143",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CFH as Green List (high evidence)",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-07-10T15:16:03.073527Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.143",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. CFH is associated with Basal laminar drusen (OMIM:126700) in OMIM but not in Gene2Phenotype. There are >3 unrelated cases in OMIM and therefore there is enough evidence to promote this gene to green status.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-07-10T15:16:03.047427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.143",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-07-10T14:54:20.468999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.142",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CFH were changed from {Macular degeneration, age-related, 4} 610698 to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:07:47.727048Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.140",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed from both monoallelic and biallelic to just biallelic as adviced by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital). ABCA4 is a susceptibility factor rather than a monogenic cause of macular degeneration; therefore, the monoallelic MOI was removed.",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2019-06-19T15:07:47.698524Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.140",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCA4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2019-05-22T07:11:03.329141Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.139",
"user_name": "Andrew Webster",
"item_type": "entity",
"text": "gene: REEP6 was added\ngene: REEP6 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551\nPhenotypes for gene: REEP6 were set to retinitis pigmentosa\nPenetrance for gene: REEP6 were set to Complete\nReview for gene: REEP6 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2019-05-07T13:53:00.520615Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2019-05-07T13:52:55.816460Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2019-05-07T13:52:55.504332Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2019-05-07T13:52:12.614177Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.139",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: FAM57B.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2019-04-08T09:56:10.382375Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.139",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-04-08T09:55:30.792721Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.138",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1549 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:27:00.515799Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:25:03.884067Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:52.136584Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CWC27 was added\ngene: CWC27 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWC27 were set to 28285769\nPhenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:52.063063Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SRD5A3 was added\ngene: SRD5A3 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRD5A3 were set to 28253385; 30019980; 24433453\nPhenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.930650Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ZNF513.",
"entity_name": "ZNF513",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.770110Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WT1.",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.660956Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WFS1.",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.548851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WASF3.",
"entity_name": "WASF3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.436458Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to VSX2.",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.323524Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to VAX1.",
"entity_name": "VAX1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.211508Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to UNC119.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:51.061817Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to UBAP1L.",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.940110Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TYRP1.",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.831655Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TYR.",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.712033Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TTLL5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.601456Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TTC21B.",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.480134Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TPP1.",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.329995Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TMEM67.",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.214245Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TMEM216.",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:50.099376Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TMEM126A.",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.986212Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TIMM8A.",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.874331Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TEX28.",
"entity_name": "TEX28",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.750358Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TEAD1.",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.597343Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TCTN3.",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.475542Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TCTN2.",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.356502Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TCTN1.",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.231843Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to STRA6.",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:49.105010Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SPG7.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.978580Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SOX2.",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.812988Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SMOC1.",
"entity_name": "SMOC1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.698307Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC7A14.",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.581363Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC45A2.",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.471108Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC37A3.",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.359650Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC24A5.",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.241468Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ROM1.",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:48.090426Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RIMS1.",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.978303Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RGS9BP.",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.865531Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RCBTB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.524554Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RB1.",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.417139Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRTFDC1.",
"entity_name": "PRTFDC1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.297475Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PPT1.",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.149529Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to POMZP3.",
"entity_name": "POMZP3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:47.038945Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PODNL1.",
"entity_name": "PODNL1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.928697Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to POC1B.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.812747Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PLD4.",
"entity_name": "PLD4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.699706Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PITX3.",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.590037Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PITX2.",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.439851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PITPNM3.",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.332311Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDZD7.",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.220760Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDE6H.",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:46.109851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDAP1.",
"entity_name": "PDAP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.999091Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PAX6.",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.889334Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to P3H2.",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.741673Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OR2M7.",
"entity_name": "OR2M7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.631220Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OPN1MW.",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.517218Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OPN1LW.",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.406791Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OPA3.",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.294776Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OPA1.",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:45.164254Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OCA2.",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.980587Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NUMB.",
"entity_name": "NUMB",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.857452Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NR2F1.",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.721443Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NEK2.",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.591556Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NAALADL1.",
"entity_name": "NAALADL1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.461047Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MYOC.",
"entity_name": "MYOC",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.328506Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MVK.",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.196711Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MTTP.",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:44.031141Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MT-TL1.",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.900666Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MT-ND6.",
"entity_name": "MT-ND6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.774194Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MT-ND4.",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.643841Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MT-ND1.",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.522575Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MT-ATP6.",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.401964Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MFSD8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.251829Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MFN2.",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.138361Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LRP2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:43.018241Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LRMDA.",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.882822Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KIZ.",
"entity_name": "KIZ",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.750923Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF7.",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.618652Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KIAA1549.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.442589Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KCTD7.",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.304357Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ITM2B.",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.170317Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ITIH2.",
"entity_name": "ITIH2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:42.037414Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IRX5.",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.903596Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to INVS.",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.772348Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HTRA1.",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.603339Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HMCN1.",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.468416Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HCCS.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.337523Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GRN.",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.176894Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GRIP1.",
"entity_name": "GRIP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:41.063197Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.948576Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GDF6.",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.795314Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FUT5.",
"entity_name": "FUT5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.675287Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FSCN2.",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.560449Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FREM2.",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.442632Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FREM1.",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.330858Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FRAS1.",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.216409Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FOXI2.",
"entity_name": "FOXI2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:40.057597Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FOXE3.",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.946271Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FOXC1.",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.827084Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FBLN5.",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.711319Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FAM71A.",
"entity_name": "FAM71A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.601236Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FAM57B.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.484612Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to EMC1.",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.337675Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to DTHD1.",
"entity_name": "DTHD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.210159Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to DHX38.",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:39.093866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.980440Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP1B1.",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.868008Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CUBN.",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.755183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CTSD.",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.609071Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CROCC.",
"entity_name": "CROCC",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.496532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL9A2.",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.380895Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL9A1.",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.259439Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL2A1.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:38.080075Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL18A1.",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.967011Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL11A2.",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.811441Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL11A1.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.688025Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CLN8.",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.552537Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CLN6.",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.417004Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CLN5.",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.289781Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CFH.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:37.156060Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CFB.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.990532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP41.",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.866933Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CCZ1B.",
"entity_name": "CCZ1B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.749796Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CACNA2D4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.627479Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.507109Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C3.",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.388886Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C2.",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.274172Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BMP4.",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:36.111353Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BCOR.",
"entity_name": "BCOR",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.980879Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBIP1.",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.859133Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to B3GLCT.",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.739231Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.611408Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ARMS2.",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.497736Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ARL13B.",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.341691Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to AMN.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.215875Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ADGRA3.",
"entity_name": "ADGRA3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:35.084413Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ACBD5.",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.970999Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.853107Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP2R1.",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.729227Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ZNF423.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.574463Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ZNF408.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ZNF408",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.454915Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WDR19.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.339824Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WDPCP.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.208968Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to VPS13B.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:34.096725Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to VCAN.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "VCAN",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.986328Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to USH2A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.837753Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to USH1G.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.722021Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to USH1C.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.600675Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TULP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.475003Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TUB.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.358782Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TTC8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.247927Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TSPAN12.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:33.091437Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TRPM1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.978668Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TRIM32.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.864030Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TOPORS.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.749327Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TMEM237.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.635468Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TIMP3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.524421Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SPATA7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.377401Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SNRNP200.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.258569Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC38A8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.144157Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC24A1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:32.029643Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SEMA4A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.914716Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SDCCAG8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.805323Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SCAPER.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.654776Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SAG.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.545668Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RS1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.437528Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RPGRIP1L.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.329231Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RPGRIP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.221889Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RPGR.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:31.111182Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RPE65.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.966067Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RP9.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RP9",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.853171Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RP2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.744010Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RP1L1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.635310Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.510765Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RLBP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.395183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RHO.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.247937Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RGS9.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.140042Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RGR.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:30.013836Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RDH5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.902252Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RDH12.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.794982Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RD3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.678848Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RBP4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.524791Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RBP3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.414806Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RAX2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.303548Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to RAB28.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.190586Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPS1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:29.079693Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPH2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.971891Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPF8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.860486Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPF6.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPF6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.715284Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPF4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPF4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.604943Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPF31.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.497332Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRPF3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRPF3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.388743Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PROM1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.271793Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PRCD.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PRCD",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.160775Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PLA2G5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PLA2G5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:28.010285Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PHYH.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.900118Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PEX7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.788529Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PEX2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.676353Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PEX1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.561158Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDE6G.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.440468Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDE6C.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.280719Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDE6B.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.167356Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PDE6A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:27.059880Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PCYT1A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.947955Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PCDH15.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.829438Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to PANK2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.706592Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OTX2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.558463Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OFD1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.450608Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to OAT.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.331722Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NYX.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.213305Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NRL.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:26.098153Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NR2E3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.985668Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NPHP4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.824530Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NPHP3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.703690Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NPHP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.581881Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NMNAT1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.458595Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to NDP.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.333109Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MYO7A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.209525Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MKS1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:25.041551Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MKKS.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.909061Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MFRP.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.778113Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MERTK.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.668091Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MAK.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MAK",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.553270Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LZTFL1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.439380Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LRP5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.291674Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LRIT3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.179379Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LRAT.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:24.069513Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LCA5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.953514Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KLHL7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.832337Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KIF11.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.716248Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KCNV2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.565572Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to KCNJ13.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.441507Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IQCB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.312870Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to INPP5E.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.189661Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IMPG2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:23.068901Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IMPG1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.950048Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IMPDH1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.795560Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IFT140.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.685730Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IDH3B.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "IDH3B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.570598Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HMX1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.451291Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HGSNAT.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.319922Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to HARS.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.189228Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GUCY2D.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:22.023386Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GUCA1B.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.889844Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GUCA1A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.747298Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GRM6.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.620441Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GRK1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.496046Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GPR179.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.373576Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GPR143.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.217427Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GNPTG.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:21.048200Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GNAT2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.920544Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to GNAT1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.800993Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FZD4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.671862Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FLVCR1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.516375Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to FAM161A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.382613Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to EYS.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.227011Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC8.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:20.101945Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC6.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.975170Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ELOVL4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.870667Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to EFEMP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.764637Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to DHDDS.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.659496Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CYP4V2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.519997Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CTNNB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.414909Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CSPP1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.310332Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CRX.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.207041Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CRB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:19.102712Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.997654Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CNNM4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.855219Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CNGB3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.750185Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CNGB1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.646026Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CNGA3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.543379Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CNGA1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.439386Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CLRN1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.324722Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CLN3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.178657Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CIB2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:18.071957Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CHM.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.951668Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CERKL.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.840862Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP78.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.718296Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP290.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.605382Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CEP164.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.459573Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CDHR1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.354866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CDH3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.248397Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CDH23.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:17.143864Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CC2D2A.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.999098Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CAPN5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CAPN5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.888550Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CACNA1F.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.732578Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CABP4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.619907Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to CA4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.513670Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C8orf37.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.405078Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C2orf71.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.299523Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C21orf2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.187479Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C1QTNF5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:16.044713Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BEST1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.929498Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS9.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.822404Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.709434Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.592831Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.482931Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.334345Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS12.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.213683Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS10.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:15.095759Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.990078Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ATOH7.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.885864Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ATF6.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.777380Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ARL6.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.631094Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ARL2BP.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.514833Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ARHGEF18.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.407593Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ALMS1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.284673Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to AIPL1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.173986Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to AHI1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:14.056372Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to AGBL5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.782179Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ADGRV1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.664663Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ADAMTS18.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ADAMTS18",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.544300Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ADAM9.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.418964Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ACO2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.304213Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ABHD12.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.187101Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCA4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2019-04-03T15:13:13.009476Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.137",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WHRN.",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:41:15.748092Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.136",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC37A3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:41:07.893313Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SLC37A3 as Amber List (moderate evidence)",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:41:07.891163Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to amber. There is only one case (PMID: 28041643), therefore, there is currently not enough evidence to promote this gene to green status.",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:41:07.872049Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.135",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: slc37a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:34:43.365068Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.134",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa to Retinitis pigmentosa; No OMIM entry",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:32:38.178391Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PDE6H as Amber List (moderate evidence)",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:32:38.175477Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to amber. PDE6H is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. There is currently only 1 case reporting on 2 siblings with retinal cone dystrophy who has a variant in PDE6H (PMID: 15629837). Therefore, there is currently not enough evidence to support promoting this gene to a green status.",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:32:38.154716Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.133",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pde6h has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:32:20.831183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.132",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to 15629837; 22901948",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:26:55.244851Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.131",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to 15629837",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T13:19:53.811429Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.130",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to ",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:47:47.679269Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MFSD8 as Green List (high evidence)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:47:47.676688Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. MFSD8 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene. Therefore, there is enough evidence to promote this gene to green status.",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:47:47.656459Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.129",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-04-03T12:38:40.144056Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.128",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: MFSD8 were set to ",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:56:05.264426Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:56:05.260001Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. LRP2 is associated with a Donnai-Barrow syndrome in OMIM and Gene2Phenotype. Retinal dystrophy is listed as one of the phenotypes in Gene2Phenotype for this gene. There are also >3 unrelated cases of patients with Donnai-Barrow syndrome. Therefore, there is sufficient evidence to promote this gene to green status.",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:56:05.238671Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.127",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:48:31.159539Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.126",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: LRP2 were set to ",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:09:00.280866Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TTLL5 as Green List (high evidence)",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:09:00.277913Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. There are >3 unrelated cases of patients with retinal dystrophy who have different variants in this gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:09:00.247049Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.125",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ttll5 has been classified as Green List (High Evidence).",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:07:40.136534Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.124",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TTLL5 were set to 24791901",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:05:17.874569Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.123",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTLL5 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T10:04:45.989719Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.122",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TTLL5 were set to ",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2019-04-03T09:45:06.977234Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: RCBTB1 as Green List (high evidence)",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T09:45:06.975043Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. RCBTB1 is associated with a phenotype in OMIM but not in Gene2Phenotype.\r\nPMID: 27486781 reported on two unrelated Taiwanese families with heterozygous frameshift variants that are suspected to be associated with Familial exudative vitreoretinopathy.\r\nPMID: 27486781 reported on 6 unrelated families (Turkish, Italian, Greek, Algerian and Chinese) affected by retinal dystrophy with different homozygous variants in the RCBTB1 gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T09:45:06.954532Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.121",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: rcbtb1 has been classified as Green List (High Evidence).",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-03T09:25:43.930565Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.120",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:04:40.884798Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.119",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RCBTB1 were set to 26908610",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:01:18.629182Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.118",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:00:59.971503Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.117",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RCBTB1 were set to PMID: 26908610",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:00:18.200303Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: POC1B as Green List (high evidence)",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:00:18.195750Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. POC1B is associated with a phenotype in OMIM and Gene2Phenotype. There are 3 unrelated cases of patients with cone-rod dystrophy who have variants in POC1B gene. Therefore, there is enough evidence to promote this gene to green status.",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:00:18.168219Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.116",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: poc1b has been classified as Green List (High Evidence).",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-02T15:58:24.432765Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: POC1B were set to ",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-02T15:58:22.809387Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.115",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: POC1B were set to ",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-02T15:55:15.457971Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.114",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2019-04-02T15:24:09.764602Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.113",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy; Achromatopsia 6; Retinal cone dystrophy 3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2019-04-02T14:58:24.840682Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.112",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome 222448",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2019-04-02T14:51:47.468517Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: KIAA1549 as Green List (high evidence)",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-02T14:51:47.463183Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status.",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-02T14:51:47.442352Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.111",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: kiaa1549 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-02T14:01:21.980117Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.110",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KIAA1549 were set to 23105016; 24938718",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-02T13:56:49.556306Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DHX38 as Amber List (moderate evidence)",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-02T13:56:49.554103Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to amber. DHX38 is associated with a phenotype in OMIM but not Gene2Phenotype. PMID: 24737827 reports 4 affected siblings from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma who have homozygous c.995G>A variant (G332). No functional studies were performed. PMID: 30208423 reports 2 different consanguineous Pakistani family who have members affected by early-onset retinitis pigmentosa. The authors found that the affected members had homozygous c.971G>A variants (R324Q). No functional studies were performed. Based on this evidence, it was decided that the gene should be promoted to an amber rating.",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-02T13:56:49.533500Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.109",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: dhx38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-02T12:37:53.086516Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.108",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CFH were changed from Macular Degeneration to {Macular degeneration, age-related, 4} 610698",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-04-02T12:02:59.928951Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.107",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: DHX38 were set to ",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-02T11:45:58.455081Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.106",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX38 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-02T11:45:45.077438Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.105",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: DHX38 were changed from No OMIM disease ID to Retinitis pigmentosa 84, 618220",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2019-04-02T11:44:23.830762Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.104",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CACNA2D4 as Green List (high evidence)",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-04-02T11:44:23.827319Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.104",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoted from red to green. CACNA2D4 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with retinal cone dystrophy with different variants in CACNA2D4. Therefore, there is enough evidence to promote this gene to green status.",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-04-02T11:44:23.795391Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.104",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cacna2d4 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-04-02T10:50:53.763729Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.103",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CACNA2D4 were set to 17033974",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-04-02T10:49:44.601930Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.102",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CACNA2D4 were set to ",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2019-04-02T10:49:12.141038Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.101",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA4A were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-04-02T08:56:06.925336Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.100",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SEMA4A were set to ",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2019-04-01T12:17:05.037537Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.99",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: KIAA1549 were set to ",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2019-04-01T11:47:15.640355Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.98",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-04-01T10:53:27.532401Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.97",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CA4 were set to ",
"entity_name": "CA4",
"entity_type": "gene"
},
{
"created": "2019-04-01T10:41:36.169053Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.96",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: RP1L1 were set to ",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:15:13.067059Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.91",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: SCAPER were set to 28041643",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:14:08.852278Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SCAPER: Changed rating: GREEN",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:12:13.691312Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:12:13.688912Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and internal clinical support for gene-disease association. Retinitis pigmentosa onset is variable and spans child / adult onset depending on the gene, so it is fine to be on the retinal panel.",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:12:13.667925Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.90",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:11:45.937719Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.89",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCAPER was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:08:23.482985Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SCAPER: Past onto internal clinical team for further review and consideration to upgrade rating to Green. Query on Retinitis pigmentosa onset.",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-30T14:07:01.272719Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SCAPER: Changed rating: AMBER",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-21T11:35:22.033547Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: added phenotype and MIM from OMIM : Tatour et al. (2017) PMID: 28794130 describes 4 patients from 3 unrelated families with intellectual disability disorder and retinitis pigmentosa and identified homozygosity or compound heterozygosity for mutations in the SCAPER gene. Noting that the retinal phenotype associated with null SCAPER mutations is not congenital but presents around the second decade of life, the authors suggested that in the retina, SCAPER does not play a developmental role, but rather is important for photoreceptor function and/or maintenance.",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-21T11:35:22.015277Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.88",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SCAPER were changed from More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism to More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism; Intellectual developmental disorder and retinitis pigmentosa, 618195",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2018-11-15T16:12:09.042506Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "1.87",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Posterior segment abnormalities to Retinal disorders\nList of related panels changed from Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-07-31T15:29:30.623175Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C21orf2",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2018-06-01T18:05:07.556737Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Panagiotis Sergouniotis",
"item_type": "entity",
"text": "reviewed gene: RDH5",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2018-06-01T18:03:38.954281Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Panagiotis Sergouniotis",
"item_type": "entity",
"text": "reviewed gene: RP1",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2018-06-01T18:02:25.660616Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Panagiotis Sergouniotis",
"item_type": "entity",
"text": "reviewed gene: RP1",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2018-06-01T14:08:25.707727Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on gene: PITPNM3",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2018-06-01T14:05:06.357950Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified HGSNAT as Green List (high evidence)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2018-05-31T15:48:19.542330Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: C2orf71",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2018-05-14T09:53:18.770454Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of RPGR",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2018-05-14T09:51:53.586220Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of RPE65",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2018-05-14T09:32:06.768205Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of CNGB3",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2018-05-14T09:30:06.705383Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of CHM",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2018-05-09T16:38:32.049906Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Andrew Webster",
"item_type": "entity",
"text": "reviewed PITPNM3",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2018-05-09T14:13:45.242566Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Andrew Webster",
"item_type": "entity",
"text": "reviewed HGSNAT",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2018-03-29T15:27:12.097534Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified AGBL5 as Green List (high evidence)",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2018-03-29T15:26:27.525095Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified AGBL5 as Amber List (moderate evidence)",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2018-03-21T12:29:02.881147Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on C5orf42",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2017-12-18T12:08:30.484493Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified PRPS1 as Green List (high evidence)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2017-12-08T17:36:52.919308Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified PRPS1 as Amber List (moderate evidence)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2017-12-08T17:32:07.776791Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2017-09-21T08:30:18.148000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified C21orf2 as green",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2017-09-21T08:27:20.767000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "edited their review of C21orf2",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2017-09-21T08:21:00.693000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified GPR143 as green",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2017-09-21T07:59:22.431000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on GPR143",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2017-09-21T07:54:34.464000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "classified SLC38A8 as green",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2017-09-21T07:52:13.654000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on SLC38A8",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2017-09-21T06:36:04.949000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Chris Campbell",
"item_type": "entity",
"text": "reviewed GPR143",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2017-09-21T06:25:03.849000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Chris Campbell",
"item_type": "entity",
"text": "reviewed SLC38A8",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2017-09-01T16:08:26.412000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "edited their review of HGSNAT",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2017-09-01T16:06:17.769000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "added HGSNAT to panel",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2017-09-01T16:06:15.765000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "reviewed HGSNAT",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2017-08-29T10:56:36.350000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "commented on C21orf2",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2017-08-22T10:55:48.276000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified CTNNB1 as green",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2017-08-17T16:49:45.811000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added CTNNB1 to panel",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2017-08-17T16:49:43.544000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed CTNNB1",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:11:22.745000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified EVR3 as grey",
"entity_name": "EVR3",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:11:22.744000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on EVR3",
"entity_name": "EVR3",
"entity_type": "gene"
},
{
"created": "2017-08-15T14:09:21.253000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified ARHGEF18 as green",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2017-08-15T13:55:45.974000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added ARHGEF18 to panel",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2017-08-15T13:55:43.968000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed ARHGEF18",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2017-08-15T08:03:38.083000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified HK1 as amber",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2017-08-15T08:00:04.031000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added HK1 to panel",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2017-08-15T08:00:01.595000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed HK1",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2017-08-14T15:02:03.621000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of NMNAT1",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2017-07-25T08:46:28.245000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified ATF6 as green",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2017-07-25T08:46:27.996000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified ATF6 as green",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2017-07-06T08:56:36.921000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified CEP78 as green",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2017-07-06T08:56:07.406000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added CEP78 to panel",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2017-07-06T08:56:05.076000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed CEP78",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2017-06-23T11:59:27.540000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Gavin Arno",
"item_type": "entity",
"text": "reviewed SEMA4A",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2017-05-08T10:09:31.190000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on C10orf11",
"entity_name": "C10orf11",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:45:31.131000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified CYP2R1 as amber",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:37:02.826000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "added CYP2R1 to panel",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2017-05-04T09:37:00.663000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed CYP2R1",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2017-03-15T11:49:42.230000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on MT-ND6",
"entity_name": "MT-ND6",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:43:48.340000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "marked ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:42:52.504000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "classified ERCC6 as green",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:42:24.084000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "marked ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:42:18.208000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "classified ERCC8 as green",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:41:43.052000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "added ERCC8 to panel",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:41:41.205000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "reviewed ERCC8",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2017-02-10T10:38:51.680000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Richard Scott",
"item_type": "entity",
"text": "reviewed ERCC6",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:47:05.994000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified LRP2 as red",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:46:16.086000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified COL18A1 as red",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:42:24.104000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed ADGRV1",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:58.372000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on WASF3",
"entity_name": "WASF3",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:57.552000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on UBAP1L",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:56.698000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on SLC37A3",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:55.856000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on PRTFDC1",
"entity_name": "PRTFDC1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:55.023000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on POMZP3",
"entity_name": "POMZP3",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:54.182000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on PODNL1",
"entity_name": "PODNL1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:53.352000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on PLD4",
"entity_name": "PLD4",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:52.483000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on OR2M7",
"entity_name": "OR2M7",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:51.652000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on NUMB",
"entity_name": "NUMB",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:50.823000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on NAALADL1",
"entity_name": "NAALADL1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:49.999000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on ITIH2",
"entity_name": "ITIH2",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:49.152000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on IRX5",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:48.326000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on FUT5",
"entity_name": "FUT5",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:47.492000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on FOXI2",
"entity_name": "FOXI2",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:46.671000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on FAM71A",
"entity_name": "FAM71A",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:45.837000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on FAM57B",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:45.013000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on CROCC",
"entity_name": "CROCC",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:44.172000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on CCZ1B",
"entity_name": "CCZ1B",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:13:43.316000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on SCAPER",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:21.410000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed WASF3",
"entity_name": "WASF3",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:19.670000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed UBAP1L",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:17.927000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed SLC37A3",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:16.236000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed PRTFDC1",
"entity_name": "PRTFDC1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:14.566000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed POMZP3",
"entity_name": "POMZP3",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:12.877000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed PODNL1",
"entity_name": "PODNL1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:11.206000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed PLD4",
"entity_name": "PLD4",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:09.272000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed OR2M7",
"entity_name": "OR2M7",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:07.601000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed NUMB",
"entity_name": "NUMB",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:05.826000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed NAALADL1",
"entity_name": "NAALADL1",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:04.073000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed ITIH2",
"entity_name": "ITIH2",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:02.429000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed IRX5",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:10:00.777000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed FUT5",
"entity_name": "FUT5",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:09:58.417000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed FOXI2",
"entity_name": "FOXI2",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:09:56.787000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed FAM71A",
"entity_name": "FAM71A",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:09:55.180000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed FAM57B",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:09:53.544000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed CROCC",
"entity_name": "CROCC",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:09:51.863000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed CCZ1B",
"entity_name": "CCZ1B",
"entity_type": "gene"
},
{
"created": "2017-01-17T17:09:50.248000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed SCAPER",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:31:02.662000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed VPS13B",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:31:01.847000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed VCAN",
"entity_name": "VCAN",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:31:01.050000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed USH2A",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:31:00.261000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed USH1C",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:59.474000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed TSPAN12",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:58.658000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed TRPM1",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:57.866000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed TOPORS",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:57.079000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed SPATA7",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:56.283000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed SNRNP200",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:55.498000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RPGRIP1",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:54.365000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RPGR",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:53.559000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RPE65",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:52.686000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RP2",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:51.910000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RP1",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:51.107000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RLBP1",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:50.323000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RHO",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:49.555000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RGR",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:48.781000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed RBP4",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:47.998000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PRPH2",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:47.201000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PRPF8",
"entity_name": "PRPF8",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:46.426000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PRPF31",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:45.640000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PROM1",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:44.863000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PDE6C",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:44.059000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PDE6B",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:43.273000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed PCDH15",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:42.481000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed OTX2",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:41.685000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed OPN1LW",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:40.897000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed OPA1",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:40.085000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed OCA2",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:39.303000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed NR2E3",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:38.513000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed NMNAT1",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:37.451000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed MYO7A",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:36.684000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed MFSD8",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:35.889000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed MFRP",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:34.779000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed MERTK",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:34Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed LRP5",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:29.728000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed LRP2",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:21.802000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed LCA5",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:20.172000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed KLHL7",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:17.470000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed KCNV2",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:15.090000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed IQCB1",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:13.209000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed IMPG2",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:12.431000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed IMPG1",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:11.652000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GUCY2D",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:10.881000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GUCA1A",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:10.112000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GRM6",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:09.316000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GRK1",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:08.513000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GPR98*",
"entity_name": "GPR98",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:06.974000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GPR179",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:06.149000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed GPR143",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:05.385000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed FLVCR1",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:04.425000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed FAM161A",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:03.641000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed EYS",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:02.856000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CYP4V2",
"entity_name": "CYP4V2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:02.047000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CRX",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:01.262000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CRB1",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:30:00.496000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed COL2A1",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:59.742000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed COL18A1",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:58.192000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed COL11A2",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:57.424000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CNGB3",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:56.665000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CNGB1",
"entity_name": "CNGB1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:55.899000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CNGA3",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:55.126000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CNGA1",
"entity_name": "CNGA1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:54.368000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CLN3",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:53.535000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CERKL",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:52.774000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CEP290",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:52.014000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CDHR1",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:51.239000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CACNA2D4",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:50.478000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CACNA1F",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:49.731000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CABP4",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:48.983000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed C2orf71",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:48.217000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed BBS10",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:47.461000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed BBS1",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:46.694000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed ATF6",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:45.947000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed ALMS1",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:45.198000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed AIPL1",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:44.420000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed AHI1",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:43.660000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed ABHD12",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2017-01-17T16:29:42.902000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed ABCA4",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2017-01-06T14:57:23.509000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on EVR3",
"entity_name": "EVR3",
"entity_type": "gene"
},
{
"created": "2016-12-09T17:12:49.743000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on DFNB31",
"entity_name": "DFNB31",
"entity_type": "gene"
},
{
"created": "2016-12-09T13:19:59.231000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on B3GALTL",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2016-12-09T13:19:58.640000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on B3GALTL",
"entity_name": "B3GALTL",
"entity_type": "gene"
},
{
"created": "2016-11-28T20:50:44.772000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Mervyn Thomas",
"item_type": "entity",
"text": "added SLC38A8 to panel",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2016-11-28T20:50:42.906000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Mervyn Thomas",
"item_type": "entity",
"text": "reviewed SLC38A8",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2016-11-28T20:46:59.516000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Mervyn Thomas",
"item_type": "entity",
"text": "reviewed GPR143",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2016-11-14T11:50:05.844000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "commented on ABCA4",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2016-11-03T12:01:58.505000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "added AGBL5 to panel",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2016-11-03T12:01:56.852000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "reviewed AGBL5",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2016-10-19T08:03:36.274000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of TUB",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2016-10-19T08:01:43.429000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of TUB",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2016-10-19T07:58:19.344000Z",
"panel_name": "Posterior segment abnormalities",
"panel_id": 307,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of TUB",
"entity_name": "TUB",
"entity_type": "gene"
}
]