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            "evidence": [
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            "penetrance": "Complete",
            "phenotypes": [
                "X-linked adrenoleukodystrophy"
            ],
            "transcript": null,
            "entity_name": "ABCD1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "UKGTN"
            ],
            "gene_data": {
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                    "P450C17",
                    "CPT7",
                    "S17AH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2593",
                "gene_name": "cytochrome P450 family 17 subfamily A member 1",
                "omim_gene": [
                    "609300"
                ],
                "alias_name": [
                    "Steroid 17-alpha-monooxygenase"
                ],
                "gene_symbol": "CYP17A1",
                "hgnc_symbol": "CYP17A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:104590288-104597290",
                            "ensembl_id": "ENSG00000148795"
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                            "ensembl_id": "ENSG00000148795"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-02-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency",
                "hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess"
            ],
            "transcript": null,
            "entity_name": "CYP17A1",
            "entity_type": "gene",
            "publications": [
                "24593890 (article in Spanish)"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "P450c21B",
                    "CA21H",
                    "CPS1",
                    "CAH1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2600",
                "gene_name": "cytochrome P450 family 21 subfamily A member 2",
                "omim_gene": [
                    "613815"
                ],
                "alias_name": [
                    "Steroid 21-monooxygenase"
                ],
                "gene_symbol": "CYP21A2",
                "hgnc_symbol": "CYP21A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:32006042-32009447",
                            "ensembl_id": "ENSG00000231852"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:32038265-32041670",
                            "ensembl_id": "ENSG00000231852"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency"
            ],
            "transcript": null,
            "entity_name": "CYP21A2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "SDR11E2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5218",
                "gene_name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2",
                "omim_gene": [
                    "613890"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 11E, member 2"
                ],
                "gene_symbol": "HSD3B2",
                "hgnc_symbol": "HSD3B2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:119957554-119965658",
                            "ensembl_id": "ENSG00000203859"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:119414931-119423035",
                            "ensembl_id": "ENSG00000203859"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-09-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss",
                "variabe effects on sex steroid synthesis",
                "Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810"
            ],
            "transcript": null,
            "entity_name": "HSD3B2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "MSH",
                    "POC",
                    "CLIP",
                    "ACTH",
                    "NPP",
                    "LPH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9201",
                "gene_name": "proopiomelanocortin",
                "omim_gene": [
                    "176830"
                ],
                "alias_name": [
                    "adrenocorticotropin",
                    "beta-lipotropin",
                    "alpha-melanocyte stimulating hormone",
                    "beta-melanocyte stimulating hormone",
                    "beta-endorphin",
                    "adrenocorticotropic hormone",
                    "opiomelanocortin prepropeptide"
                ],
                "gene_symbol": "POMC",
                "hgnc_symbol": "POMC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:25383722-25391772",
                            "ensembl_id": "ENSG00000115138"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:25160853-25168903",
                            "ensembl_id": "ENSG00000115138"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734",
                "{Obesity, early-onset, susceptibility to}, 601665"
            ],
            "transcript": null,
            "entity_name": "POMC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "TR",
                    "TRXR2",
                    "TR3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18155",
                "gene_name": "thioredoxin reductase 2",
                "omim_gene": [
                    "606448"
                ],
                "alias_name": [
                    "thioredoxin reductase beta",
                    "selenoprotein Z"
                ],
                "gene_symbol": "TXNRD2",
                "hgnc_symbol": "TXNRD2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "22:19863040-19929341",
                            "ensembl_id": "ENSG00000184470"
                        }
                    },
                    "GRch38": {
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                            "location": "22:19875517-19941992",
                            "ensembl_id": "ENSG00000184470"
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                },
                "hgnc_date_symbol_changed": "2002-02-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Familial glucocorticoid deficiency"
            ],
            "transcript": null,
            "entity_name": "TXNRD2",
            "entity_type": "gene",
            "publications": [
                "PMC4207928",
                "24601690"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 20,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "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 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": "55bf785822c1fc0fe45530bf",
    "regions": [],
    "version": "2.2",
    "disease_group": "Endocrine disorders",
    "version_created": "2020-02-19T16:07:04.273246Z",
    "disease_sub_group": "Adrenal disorders",
    "relevant_disorders": [
        "R150"
    ],
    "signed_off": "2020-02-19"
}