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[
{
"created": "2022-11-30T14:38:18.523383Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "2.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:37:40.215160Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "2.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-05-10T15:02:50.682492Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: C8orf37",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:58:50.358713Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.13",
"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": "2022-03-08T09:05:56.149383Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: IFT27.",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:05:39.528046Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: IFT74.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2022-03-08T09:05:06.324585Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.13",
"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": "2022-03-08T09:05:06.313492Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.13",
"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": "2022-03-08T09:05:01.729676Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.12",
"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": "2022-03-08T09:05:01.676739Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.12",
"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": "2021-04-07T17:01:54.958863Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: BBS1 were set to 12118255",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:59:07.394775Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from 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": "2021-02-26T14:41:56.042061Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: ALMS1.",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:46:00.556406Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.9",
"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 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.; to: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 32144365 is the second case for this gene. Taken together there are 2 cases and an animal model. 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": "2021-01-07T10:42:44.639088Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to 27486776",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:42:29.279402Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: IFT74 as Amber List (moderate evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-01-07T10:42:29.220587Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.8",
"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 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": "2021-01-07T10:42:29.103278Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.8",
"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": "2021-01-07T10:41:30.740979Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: IFT74.",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:16:07.100221Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: C8orf37 as Amber List (moderate evidence)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:16:07.088371Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.7",
"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 are 2 cases.",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-12-09T16:16:06.912640Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-12-09T15:00:00.232736Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: C8orf37 were changed from Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 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": "2020-07-31T08:29:45.585489Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: IFT27 were set to 24488770",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:28:45.445705Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IFT27 as Amber List (moderate evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:28:45.438781Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: With the addition of recent publications, there are now 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": "2020-07-31T08:28:45.421069Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.4",
"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": "2020-07-31T08:24:07.920688Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: IFT27.",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-07-31T08:23:30.628514Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-02-18T17:03:31.375646Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-02T14:32:04.240020Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-02T14:31:34.143448Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.25",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-02T14:29:12.347117Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-10-02T14:28:59.051440Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-10-02T14:28:28.107786Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2019-07-31T15:36:42.875058Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.23",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R107",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-16T15:37:37.381571Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to 20671153",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-07-16T15:37:20.481177Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-07-16T15:37:20.478773Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from green to amber. There are several unrelated cases of oral-facial-digital syndromes caused by variants in WDPCP; however, there is only 1 case of BBS (PMID: 28289185,25427950 and 27158779). Therefore, this gene has been demoted to amber.",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-07-16T15:37:20.439576Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:35:37.132887Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985; Bardet Biedl syndrome 8, 615985 to Bardet-Biedl syndrome 8, 615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:35:19.740281Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl Syndrome, 615993; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:34:48.494660Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6, 605231; Bardet Biedl syndrome 6, 236700; McKusick-Kaufman syndrome, 236700 to Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:34:06.818458Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS9 were changed from Bardet Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9, 615986 to Bardet Biedl syndrome 9, 615986",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:28:42.365903Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984; Bardet Biedl syndrome 7, 615984 to Bardet-Biedl syndrome 7, 615984",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:28:18.917308Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from Bardet Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5, 615983 to Bardet Biedl syndrome 5, 615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:28:02.346801Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982; Bardet Biedl syndrome 4, 615982 to Bardet-Biedl syndrome 4, 615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:27:47.955516Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981; Bardet Biedl syndrome 2, 615981 to Bardet-Biedl syndrome 2, 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.464131Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: Heon et al 2016 PMID: 27008867, Estrada-Cuzcano et al 2012 PMID: 22177090; Phenotypes: Bardet-Biedl syndrome 21 617406, Cone-rod dystrophy 16, Retinitis pigmentosa 64 614500 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.450205Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: ; Publications: Lindstrand et al 2016 PMID 27486776; Phenotypes: ?Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.439475Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: IFT27: Rating: RED; Mode of pathogenicity: ; Publications: Aldahmesh et al 2014 PMID: 24488770; Phenotypes: ?Bardet-Biedl syndrome 19 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.428592Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBIP1: Rating: RED; Mode of pathogenicity: ; Publications: Scheidecker et al 2014 PMID: 24026985; Phenotypes: ?Bardet-Biedl syndrome 18 615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.417869Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: Marion et al 2012 PMID: 22510444; Phenotypes: Bardet-Biedl syndrome 17 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.407296Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: Otto et al 2010 PMID: 20835237; Phenotypes: Bardet-Biedl syndrome 16 615993, Senior-Loken syndrome 7 613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.396331Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: Kim et al 2010 PMID: 20671153; Phenotypes: ?Bardet-Biedl syndrome 15 615992, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.385357Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Valente et al 2006 PMID: 16682970, den Hollander et al 2006 PMID: 16909394, Baala et al 2007 PMID: 17160906, Sayer et al 2006 PMID: 16682973; Phenotypes: Bardet-Biedl syndrome 14 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10 611755, Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.374678Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Kyttala et al 2006 PMID: 16415886, Romani et al 2014 PMID, 24886560; Phenotypes: Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28 617121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.364031Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2007 PMID: 17160889; Phenotypes: Bardet-Biedl syndrome 12 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.353221Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: Chiang et al 2006 PMID: 16606853, Frosk et al 2002 PMID: 11822024; Phenotypes: ?Bardet-Biedl syndrome 11 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.342114Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2006 PMID: 16582908; Phenotypes: Bardet-Biedl syndrome 10 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.331271Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 16380913; Phenotypes: Bardet-Biedl syndrome 9 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.320386Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: Ansley et al 2003 PMID: 14520415; Phenotypes: Bardet-Biedl syndrome 8 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.309291Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: Badano et al PMID: 12567324; Phenotypes: Bardet-Biedl syndrome 7 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.295141Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: Katsanis et al 2000 PMID: 10973251, Stone et al 2000 PMID: 10802661; Phenotypes: Bardet-Biedl syndrome 6 605231, McKusick-Kaufman syndrome 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.282853Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: Li et al 2004 PMID: 15137946; Phenotypes: Bardet-Biedl syndrome 5 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.272557Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2001 PMID: 11381270; Phenotypes: Bardet-Biedl syndrome 4 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.262934Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: Chiang et al 2004 PMID: 15258860, Fan et al 2004 PMID: 15314642; Phenotypes: Bardet-Biedl syndrome 3 600151, ?Retinitis pigmentosa 55 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.252842Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 11285252; Phenotypes: Bardet-Biedl syndrome 2 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:24:41.241869Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.11",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2002 PMID: 12118255; Phenotypes: Bardet-Biedl syndrome 1 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:22:57.885235Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS12 were changed from Bardet Biedl syndrome 12, 615989; Bardet-Biedl syndrome 12, 615989 to Bardet Biedl syndrome 12, 615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:22:44.171559Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS10 were changed from Bardet Biedl syndrome 10, 615987; Bardet-Biedl syndrome 10, 615987 to Bardet Biedl syndrome 10, 615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:22:30.229120Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900; Bardet Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1, 209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:22:15.079055Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3, 600151 to ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.831090Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to C8orf37.\nAdded phenotypes Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 for gene: C8orf37\nPublications for gene C8orf37 were changed from 26854863; 27008867 to 22177090; 27008867",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.765233Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IFT74.\nAdded phenotypes ?Bardet-Biedl syndrome 20, 617119 for gene: IFT74",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.692477Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to IFT27.\nAdded phenotypes ?Bardet-Biedl syndrome 19, 615996 for gene: IFT27\nPublications for gene IFT27 were changed from to 24488770",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.621350Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBIP1.\nAdded phenotypes ?Bardet-Biedl syndrome 18, 615995 for gene: BBIP1",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.555726Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to LZTFL1.\nAdded phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1\nPublications for gene LZTFL1 were changed from to 22510444",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.488836Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to SDCCAG8.\nAdded phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8\nPublications for gene SDCCAG8 were changed from to 20835237",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.424074Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to WDPCP.\nAdded phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP\nPublications for gene WDPCP were changed from to 20671153",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.371960Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Bardet Biedl syndrome. Sources: NHS GMS\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP290 were set to 20177705; 17160906; 16682973; 16682970; 16909394\nPhenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.318363Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MKS1.\nAdded phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000; Joubert syndrome 28, 617121 for gene: MKS1\nPublications for gene MKS1 were changed from to 16415886; 20177705; 4886560",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.257495Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS12.\nAdded phenotypes Bardet-Biedl syndrome 12, 615989 for gene: BBS12\nPublications for gene BBS12 were changed from to 17160889",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.197395Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TRIM32.\nAdded phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.133981Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS10.\nAdded phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10\nPublications for gene BBS10 were changed from to 16582908",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.072959Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS9.\nAdded phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9\nPublications for gene BBS9 were changed from to 16380913",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:33.012104Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to TTC8.\nAdded phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8\nPublications for gene TTC8 were changed from to 14520415",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.949131Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS7.\nAdded phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7\nPublications for gene BBS7 were changed from to 12567324",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.885260Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to MKKS.\nAdded phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS\nPublications for gene MKKS were changed from to 10973251; 10802661",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.824831Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS5.\nAdded phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5\nPublications for gene BBS5 were changed from to 15137946",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.755241Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS4.\nAdded phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4\nPublications for gene BBS4 were changed from to 11381270",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.688598Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to ARL6.\nAdded phenotypes ?Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 600151 for gene: ARL6\nPublications for gene ARL6 were changed from to 15314642; 15258860",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.626735Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS2.\nAdded phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2\nPublications for gene BBS2 were changed from to 11285252",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-03-15T13:20:32.550441Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source NHS GMS was added to BBS1.\nAdded phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1\nPublications for gene BBS1 were changed from to 12118255",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-02-19T13:38:16.166520Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Bardet Biedl syndrome. Sources: Expert Review Red\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM32 were set to 16606853; 11822024\nPhenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11, 615988",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2019-02-19T13:38:16.120057Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Bardet Biedl syndrome. Sources: Expert Review Red\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 27486776\nPhenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20, 617119",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2019-02-19T13:38:16.079067Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CCDC28B was added\ngene: CCDC28B was added to Bardet Biedl syndrome. Sources: Expert Review Red\nMode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC28B were set to 23015189\nPhenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2019-02-19T13:38:16.028805Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: C8orf37 was added\ngene: C8orf37 was added to Bardet Biedl syndrome. Sources: Expert Review Red\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C8orf37 were set to 26854863; 27008867\nPhenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2019-02-19T13:38:15.990109Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBIP1 was added\ngene: BBIP1 was added to Bardet Biedl syndrome. Sources: Expert Review Red\nMode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBIP1 were set to 24026985\nPhenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-02-19T13:38:15.947817Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: IFT27 was added\ngene: IFT27 was added to Bardet Biedl syndrome. Sources: Expert Review Amber\nMode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT27 were set to ?Bardet-Biedl syndrome 19, 615996",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2019-02-19T11:42:45.558664Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.3",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: ALMS1 as No list",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-02-19T11:42:45.555367Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.3",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Associated with Alstrom syndrome rather than Bardet-Biedl syndrome.",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-02-19T11:42:45.513992Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.3",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: alms1 has been removed from the panel.",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.441537Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: WDPCP was added\ngene: WDPCP was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.380925Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Bardet Biedl syndrome 8, 615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.334165Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}, 615991",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.287626Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to Bardet-Biedl Syndrome, 615993",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.240059Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Bardet-Biedl syndrome 13, 615990",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.194656Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to Bardet Biedl syndrome 6, 236700",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.148001Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.108228Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet Biedl syndrome 9, 615986",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.067429Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7, 615984",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:41.024845Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet Biedl syndrome 5, 615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.983740Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet Biedl syndrome 4, 615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.943150Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet Biedl syndrome 2, 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.897702Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.857459Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.814571Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet Biedl syndrome 1, 209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.769026Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-02-15T15:05:40.721265Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800; Bardet-Biedl Syndrome",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2018-11-16T10:43:38.973534Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Bardet Biedl syndrome\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]