GET /api/v1/panels/551/?version=1.2
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{
    "id": 551,
    "name": "Surfactant deficiency",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
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                    "ABC-C",
                    "EST111653",
                    "LBM180"
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                "hgnc_id": "HGNC:33",
                "gene_name": "ATP binding cassette subfamily A member 3",
                "omim_gene": [
                    "601615"
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                "alias_name": null,
                "gene_symbol": "ABCA3",
                "hgnc_symbol": "ABCA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                    },
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                },
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            },
            "penetrance": null,
            "phenotypes": [
                "Surfactant metabolism dysfunction, pulmonary 3, 610921"
            ],
            "transcript": null,
            "entity_name": "ABCA3",
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                "17719949"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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                "alias": [
                    "TTF-1",
                    "TTF1"
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                "hgnc_id": "HGNC:11825",
                "gene_name": "NK2 homeobox 1",
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                "alias_name": null,
                "gene_symbol": "NKX2-1",
                "hgnc_symbol": "NKX2-1",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2007-07-26"
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            "penetrance": null,
            "phenotypes": [
                "Neuroendocrine cell hyperplasia of infancy",
                "Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978"
            ],
            "transcript": null,
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                "15289765"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
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                "alias": [
                    "SP-B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10801",
                "gene_name": "surfactant protein B",
                "omim_gene": [
                    "178640"
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                "alias_name": null,
                "gene_symbol": "SFTPB",
                "hgnc_symbol": "SFTPB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                },
                "hgnc_date_symbol_changed": "1988-07-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Surfactant metabolism dysfunction, pulmonary 1, 265120"
            ],
            "transcript": null,
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                "12501227",
                "10712351"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "NHS GMS"
            ],
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                    "SP-C",
                    "PSP-C",
                    "SMDP2",
                    "BRICD6"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10802",
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                "omim_gene": [
                    "178620"
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                "alias_name": [
                    "BRICHOS domain containing 6"
                ],
                "gene_symbol": "SFTPC",
                "hgnc_symbol": "SFTPC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:22014426-22021992",
                            "ensembl_id": "ENSG00000168484"
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                    },
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                },
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            },
            "penetrance": null,
            "phenotypes": [
                "Surfactant metabolism dysfunction, pulmonary 2, 610913"
            ],
            "transcript": null,
            "entity_name": "SFTPC",
            "entity_type": "gene",
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                "11207353",
                "19443464"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "SP-A2",
                    "COLEC5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10799",
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                "omim_gene": [
                    "178642"
                ],
                "alias_name": [
                    "surfactant, pulmonary-associated protein A2A"
                ],
                "gene_symbol": "SFTPA2",
                "hgnc_symbol": "SFTPA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:81315608-81320153",
                            "ensembl_id": "ENSG00000185303"
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                    },
                    "GRch38": {
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                            "location": "10:79555852-79560402",
                            "ensembl_id": "ENSG00000185303"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-04-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Pulmonary fibrosis, idiopathic, 178500"
            ],
            "transcript": null,
            "entity_name": "SFTPA2",
            "entity_type": "gene",
            "publications": [
                "19100526",
                "26568241"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "IL5RB",
                    "CD131",
                    "betaGMR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2436",
                "gene_name": "colony stimulating factor 2 receptor beta common subunit",
                "omim_gene": [
                    "138981"
                ],
                "alias_name": [
                    "beta common cytokine receptor",
                    "beta-GM-CSF receptor"
                ],
                "gene_symbol": "CSF2RB",
                "hgnc_symbol": "CSF2RB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:37309670-37336491",
                            "ensembl_id": "ENSG00000100368"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36913628-36940449",
                            "ensembl_id": "ENSG00000100368"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-07"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "CSF2RB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "SP-D",
                    "COLEC7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10803",
                "gene_name": "surfactant protein D",
                "omim_gene": [
                    "178635"
                ],
                "alias_name": null,
                "gene_symbol": "SFTPD",
                "hgnc_symbol": "SFTPD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:81697496-81742370",
                            "ensembl_id": "ENSG00000133661"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:79937740-79982614",
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                    }
                },
                "hgnc_date_symbol_changed": "1992-06-26"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "SFTPD",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "TRT",
                    "TP2",
                    "TCS1",
                    "hEST2",
                    "EST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11730",
                "gene_name": "telomerase reverse transcriptase",
                "omim_gene": [
                    "187270"
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                "alias_name": null,
                "gene_symbol": "TERT",
                "hgnc_symbol": "TERT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:1253262-1295184",
                            "ensembl_id": "ENSG00000164362"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "penetrance": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "TERT",
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            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 8,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.2",
    "disease_group": "",
    "version_created": "2020-03-02T16:37:09.606090Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R192"
    ],
    "signed_off": "2020-03-02"
}