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Panelapp WebServices

List Panels

Endpoint: https://panelapp.genomicsengland.co.uk/WebServices/list_panels/

Returns the list of panels

{
    "result": [
        {
            "DiseaseGroup": "Ophthalmological disorders",
            "Number_of_Genes": 54,
            "Name": "Anophthalmia/microphthamia",
            "Panel_Id": "553f97abbb5a1616e5ed45f9",
            "CurrentVersion": "1.8",
            "DiseaseSubGroup": "Ocular malformations",
            "Relevant_disorders": [
                "Anophthalmia or microphthamia"
            ]
        }
    ]
}

Filtering

Parameters:

  • Name: Filters the list by panel name

Examples

Get Panel Info

Endpoint https://panelapp.genomicsengland.co.uk/WebServices/get_panel/{Panel ID | Panel Name}/

Returns Panel info

{
    "result": {
        "Genes": [
            {
                "Publications": null,
                "ModeOfPathogenicity": null,
                "Evidences": [
                    "Emory Genetics Laboratory",
                    "Expert Review Green"
                ],
                "EnsembleGeneIds": [
                    "ENSG00000054598"
                ],
                "GeneSymbol": "FOXC1",
                "ModeOfInheritance": "monoallelic",
                "Phenotypes": null,
                "Penetrance": "Complete",
                "LevelOfConfidence": "HighEvidence"
            }
        ],
        "DiseaseSubGroup": "Ocular malformations",
        "version": "1.8",
        "SpecificDiseaseName": "Anophthalmia/microphthamia",
        "DiseaseGroup": "Ophthalmological disorders"
    }
}

Filtering

Parameters:

  • ModeOfInheritance: comma separated list of modes of inheritance, one of the following values:

    • monoallelic_not_imprinted
    • monoallelic_maternally_imprinted
    • monoallelic_paternally_imprinted
    • monoallelic
    • biallelic
    • monoallelic_and_biallelic
    • monoallelic_and_more_severe_biallelic
    • xlinked_biallelic
    • xlinked_monoallelic
    • mitochondrial
    • unknown

  • ModeOfPathogenicity: comma separated list of modes of pathogenicities, one of the following values:

    • loss_of_function
    • other

  • Penetrance: comma separated list of penetrance values, one of the following:

    • unknown
    • Complete
    • Incomplete

  • LevelOfConfidence: comma separated list of confidence levels, one of the following:

    • HighEvidence
    • ModerateEvidence
    • LowEvidence

  • version: Panel version

Examples

Search by Gene

Endpoint https://panelapp.genomicsengland.co.uk/WebServices/search_genes/{Comma separated list of gene symbol}/

{
    "results": [
        {
            "SpecificDiseaseName": "Insulin resistance (including lipodystrophy",
            "Publications": [
                "15166380",
                "17327441",
                "17576055"
            ],
            "Phenotypes": [
                "Diabetes mellitus, type II\t125853"
            ],
            "EnsembleGeneIds": [
                "ENSG00000105221"
            ],
            "Evidences": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Literature"
            ],
            "DiseaseGroup": "Endocrine disorders",
            "ModeOfInheritance": "monoallelic_not_imprinted",
            "DiseaseSubGroup": "Disorders of unusual phenotypes",
            "LevelOfConfidence": "LowEvidence",
            "ModeOfPathogenicity": null,
            "GeneSymbol": "AKT2",
            "version": "1.2",
            "Penetrance": "Complete"
        },
        {
            "SpecificDiseaseName": "Multi-organ autoimmune diabetes",
            "Publications": null,
            "Phenotypes": [
                "Diabetes mellitus, type II, 125853",
                " Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900"
            ],
            "EnsembleGeneIds": [
                "ENSG00000105221"
            ],
            "Evidences": [
                "Expert Review Removed",
                "Radboud University Medical Center, Nijmegen"
            ],
            "DiseaseGroup": "Endocrine disorders",
            "ModeOfInheritance": null,
            "DiseaseSubGroup": "Disorders of unusual phenotypes",
            "LevelOfConfidence": "NoList",
            "ModeOfPathogenicity": null,
            "GeneSymbol": "AKT2",
            "version": "1.4",
            "Penetrance": "Complete"
        },
        {
            "SpecificDiseaseName": "Regional overgrowth disorders",
            "Publications": null,
            "Phenotypes": [
                "Hypoinsulinemic hypoglycemia with hemihypertrophy,240900",
                "Hypoinsulinemic hypoglycemia with hemihypertrophy",
                " HIHGHH",
                "Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900"
            ],
            "EnsembleGeneIds": [
                "ENSG00000105221"
            ],
            "Evidences": [
                "Other",
                "Radboud University Medical Center, Nijmegen"
            ],
            "DiseaseGroup": "",
            "ModeOfInheritance": "monoallelic",
            "DiseaseSubGroup": "",
            "LevelOfConfidence": "LowEvidence",
            "ModeOfPathogenicity": null,
            "GeneSymbol": "AKT2",
            "version": "1.3",
            "Penetrance": "Complete"
        }
    ],
    "meta": {
        "numOfResults": 3
    }
}

Filtering

Parameters:

  • ModeOfInheritance: comma separated list of modes of inheritance, one of the following values:

    • monoallelic_not_imprinted
    • monoallelic_maternally_imprinted
    • monoallelic_paternally_imprinted
    • monoallelic
    • biallelic
    • monoallelic_and_biallelic
    • monoallelic_and_more_severe_biallelic
    • xlinked_biallelic
    • xlinked_monoallelic
    • mitochondrial
    • unknown

  • ModeOfPathogenicity: comma separated list of modes of pathogenicities, one of the following values:

    • loss_of_function
    • other

  • Penetrance: comma separated list of penetrance values, one of the following:

    • unknown
    • Complete
    • Incomplete

  • LevelOfConfidence: comma separated list of confidence levels, one of the following:

    • HighEvidence
    • ModerateEvidence
    • LowEvidence

  • Evidences: comma separated list of evidences, one of the following:

    • radboud_university_medical_center_nijmegen
    • illumina_trugenome_clinical_sequencing_services
    • emory_genetics_laboratory
    • ukgtn
    • other
    • export_list
    • export_review
    • literature
    • eligibility_statement_prior_genetic_testing
    • research

  • panel_name: only search specified panel names, comma separated list

Examples

Additional parameters

Additionally, you can specify assembly GET parameters with either GRch37 (default) or GRch38 as a value.

EnsemblIds will be returned for the specified assembly version: GRch37 version 82 or GRch38 version 90 if they exists in the database.