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[
{
"created": "2021-03-10T18:58:47.973861Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.13",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400 to Craniosynostosis 1 OMIM:123100; Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:57:54.434900Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3 OMIM:615314",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:56:47.643607Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans OMIM:612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:56:21.484013Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:41:03.732054Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410; Apert syndrome OMIM:101200; Beare-Stevenson cutis gyrata syndrome OMIM:123790; Pfeiffer syndrome OMIM:101600; Craniofacial-skeletal-dermatologic dysplasia OMIM:101600; Crouzon syndrome OMIM:123500; Jackson-Weiss syndrome OMIM:123150; Saethre-Chotzen syndrome OMIM:101400; Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:37:38.407288Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:36:06.388350Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:32:08.547369Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4 OMIM:600775",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:32:00.249190Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from Chitayat syndrome 617180; Craniosynostosis 4 600775 to Craniosynostosis 4 600775",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2021-03-10T18:27:29.702223Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia OMIM:304110",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-13T13:38:26.171915Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.3",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-04T09:49:37.827925Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-04T09:47:31.379297Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.15",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-14T12:19:12.462828Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.14",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from to R99",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-05-06T10:57:26.437137Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: See review by Tracy Lester on Craniosynostosis panel - specific GOF variants in ex7 & 10 only",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:57:26.424073Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FGFR3 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": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:53:12.170427Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypes",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:53:12.159202Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FGFR2 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": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:51:37.605995Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - rare example of cellular interference",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:51:37.593996Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EFNB1 was changed from to Other",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:49:47.668378Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosis",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:49:47.655186Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FGFR1 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": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:45:26.007476Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:45:25.988780Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from to Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:43:03.590055Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:43:03.577680Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:42:53.154948Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-05-06T10:42:53.135083Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-05-03T10:14:59.516962Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-05-03T10:14:00.980104Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.946791Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.933243Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.919220Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.905365Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.891695Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.877539Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:05:55.863063Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.3",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.678392Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: TWIST1 was added\ngene: TWIST1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.631204Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: TCF12 was added\ngene: TCF12 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TCF12 were set to Craniosynostosis 3 615314",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.585277Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.536195Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.495170Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.452372Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: ERF was added\ngene: ERF was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ERF were set to Chitayat syndrome 617180; Craniosynostosis 4 600775",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2019-04-02T16:03:25.408730Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: EFNB1 was added\ngene: EFNB1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS\nMode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia 304110",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2018-11-16T09:21:04.831406Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Common craniosynostosis syndromes\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]