Search Entities

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            "gene_data": {
                "alias": [
                    "DTDST"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10994",
                "gene_name": "solute carrier family 26 member 2",
                "omim_gene": [
                    "606718"
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                "alias_name": null,
                "gene_symbol": "SLC26A2",
                "hgnc_symbol": "SLC26A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:149340300-149373018",
                            "ensembl_id": "ENSG00000155850"
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                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "entity_type": "gene",
            "entity_name": "SLC26A2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 21922596"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "multiple epiphyseal dysplasia",
                "Multiple Epiphyseal Dysplasia, Recessive",
                "Epiphyseal dysplasia, multiple, 4"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 211,
                "hash_id": "553f968cbb5a1616e5ed45cd",
                "name": "Multiple Epiphyseal Dysplasia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "1.2",
                "version_created": "2017-11-05T02:37:20.234212Z",
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                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "12R-LOX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:430",
                "gene_name": "arachidonate 12-lipoxygenase, 12R type",
                "omim_gene": [
                    "603741"
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                "alias_name": null,
                "gene_symbol": "ALOX12B",
                "hgnc_symbol": "ALOX12B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7975954-7991021",
                            "ensembl_id": "ENSG00000179477"
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                    "GRch38": {
                        "90": {
                            "location": "17:8072636-8087703",
                            "ensembl_id": "ENSG00000179477"
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                },
                "hgnc_date_symbol_changed": "1998-07-22"
            },
            "entity_type": "gene",
            "entity_name": "ALOX12B",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "11773004",
                "17139268",
                "19890349",
                "16116617"
            ],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "phenotypes": [
                "Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)",
                "Nonbullous congenital ichthyosiform erythroderma (NBCIE)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 215,
                "hash_id": "562f5e7822c1fc582756e3bb",
                "name": "Palmoplantar keratoderma and erythrokeratodermas",
                "disease_group": "Dermatological disorders",
                "disease_sub_group": "Keratodermas",
                "status": "public",
                "version": "1.17",
                "version_created": "2020-01-07T16:48:57.427097Z",
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11006",
                "gene_name": "solute carrier family 2 member 2",
                "omim_gene": [
                    "138160"
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                "alias_name": null,
                "gene_symbol": "SLC2A2",
                "hgnc_symbol": "SLC2A2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:170714137-170744539",
                            "ensembl_id": "ENSG00000163581"
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                            "location": "3:170996348-171026750",
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                },
                "hgnc_date_symbol_changed": "1989-01-13"
            },
            "entity_type": "gene",
            "entity_name": "SLC2A2",
            "confidence_level": "0",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "{Diabetes mellitus, noninsulin-dependent}",
                "Fanconi-Bickel syndrome, 227810",
                "Neonatal Diabetes"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 87,
                "hash_id": "55d1e3f522c1fc237fbd46e9",
                "name": "Multi-organ autoimmune diabetes",
                "disease_group": "Endocrine disorders",
                "disease_sub_group": "Disorders of unusual phenotypes",
                "status": "public",
                "version": "1.8",
                "version_created": "2020-01-21T16:56:08.048654Z",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DAPPER1",
                    "THYEX3",
                    "HDPR1",
                    "DAPPER",
                    "FRODO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17748",
                "gene_name": "dishevelled binding antagonist of beta catenin 1",
                "omim_gene": [
                    "607861"
                ],
                "alias_name": null,
                "gene_symbol": "DACT1",
                "hgnc_symbol": "DACT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:59100685-59115039",
                            "ensembl_id": "ENSG00000165617"
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                    },
                    "GRch38": {
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                            "location": "14:58633967-58648321",
                            "ensembl_id": "ENSG00000165617"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-01-15"
            },
            "entity_type": "gene",
            "entity_name": "DACT1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "28054444",
                "22610794",
                "19701191"
            ],
            "evidence": [
                "Literature",
                "Other"
            ],
            "phenotypes": [
                "?Townes-Brocks syndrome 2,617466",
                "TBS2"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 247,
                "hash_id": "5763f4588f620350a199604e",
                "name": "Radial dysplasia",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "Dysmorphic disorders",
                "status": "public",
                "version": "1.13",
                "version_created": "2020-12-24T15:20:30.638505Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 60,
                    "number_of_strs": 0,
                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "COCH-5B2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2180",
                "gene_name": "cochlin",
                "omim_gene": [
                    "603196"
                ],
                "alias_name": null,
                "gene_symbol": "COCH",
                "hgnc_symbol": "COCH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:31343720-31364271",
                            "ensembl_id": "ENSG00000100473"
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                    "GRch38": {
                        "90": {
                            "location": "14:30874514-30895065",
                            "ensembl_id": "ENSG00000100473"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-16"
            },
            "entity_type": "gene",
            "entity_name": "COCH",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [
                "28787010",
                "9806553",
                "10400989",
                "14512963",
                "14704763",
                "26758463"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Other"
            ],
            "phenotypes": [
                "Deafness, autosomal dominant 9, 601369",
                "cochlear-vestibular dysfunction"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "watchlist"
            ],
            "panel": {
                "id": 394,
                "hash_id": null,
                "name": "Familial Meniere Disease",
                "disease_group": "Hearing and ear disorders",
                "disease_sub_group": "Other hearing and ear disorders",
                "status": "public",
                "version": "1.1",
                "version_created": "2018-01-17T16:26:29.432517Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 130,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1675",
                "gene_name": "CD3g molecule",
                "omim_gene": [
                    "186740"
                ],
                "alias_name": null,
                "gene_symbol": "CD3G",
                "hgnc_symbol": "CD3G",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:118215059-118225876",
                            "ensembl_id": "ENSG00000160654"
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                    },
                    "GRch38": {
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                            "location": "11:118344344-118355161",
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                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "CD3G",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "UKGTN"
            ],
            "phenotypes": [
                "Inflammatory Bowel Disease (Very Early Onset)"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 33,
                "hash_id": "56ba026422c1fc5025762b4f",
                "name": "Gastrointestinal epithelial barrier disorders",
                "disease_group": "Gastroenterological disorders",
                "disease_sub_group": "Gastrointestinal disorders",
                "status": "public",
                "version": "1.59",
                "version_created": "2019-06-20T15:11:44.535737Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 83,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13666",
                "gene_name": "aladin WD repeat nucleoporin",
                "omim_gene": [
                    "605378"
                ],
                "alias_name": [
                    "aladin",
                    "Allgrove, triple-A",
                    "adracalin"
                ],
                "gene_symbol": "AAAS",
                "hgnc_symbol": "AAAS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:53701240-53718648",
                            "ensembl_id": "ENSG00000094914"
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                    "GRch38": {
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                            "location": "12:53307456-53324864",
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                "hgnc_date_symbol_changed": "2000-11-08"
            },
            "entity_type": "gene",
            "entity_name": "AAAS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "11062474, 7895750"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
                "Achalasia-addisonianism-alacrimia syndrome, OMIM:231550",
                "Triple-A syndrome, MONDO:0009279"
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            "tags": [],
            "panel": {
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                "hash_id": "5763f1d68f620350a22bccdc",
                "name": "Familial dysautonomia",
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                "disease_sub_group": "",
                "status": "public",
                "version": "1.9",
                "version_created": "2020-12-18T15:34:47.161531Z",
                "relevant_disorders": [],
                "stats": {
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                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "JDP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28908",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member C12",
                "omim_gene": [
                    "606060"
                ],
                "alias_name": [
                    "J domain protein 1"
                ],
                "gene_symbol": "DNAJC12",
                "hgnc_symbol": "DNAJC12",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:69556427-69597924",
                            "ensembl_id": "ENSG00000108176"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:67796665-67838166",
                            "ensembl_id": "ENSG00000108176"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-04-15"
            },
            "entity_type": "gene",
            "entity_name": "DNAJC12",
            "confidence_level": "0",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert list"
            ],
            "phenotypes": [
                "Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 39,
                "hash_id": "58078e6e8f62030e233a8157",
                "name": "Parkinson Disease and Complex Parkinsonism",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodegenerative disorders",
                "status": "public",
                "version": "1.68",
                "version_created": "2020-05-15T16:16:26.075287Z",
                "relevant_disorders": [
                    "Complex Parkinsonism (includes pallido-pyramidal syndromes)",
                    "Early onset and familial Parkinson's Disease"
                ],
                "stats": {
                    "number_of_genes": 71,
                    "number_of_strs": 9,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3791",
                "gene_name": "folate receptor 1",
                "omim_gene": [
                    "136430"
                ],
                "alias_name": [
                    "folate receptor alpha"
                ],
                "gene_symbol": "FOLR1",
                "hgnc_symbol": "FOLR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:71900602-71907345",
                            "ensembl_id": "ENSG00000110195"
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                    },
                    "GRch38": {
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                            "location": "11:72189558-72196323",
                            "ensembl_id": "ENSG00000110195"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-08"
            },
            "entity_type": "gene",
            "entity_name": "FOLR1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "OMIM",
                "Expert list"
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            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 111,
                "hash_id": "58c7fd7f8f6203413360f1b6",
                "name": "COVID-19 research",
                "disease_group": "Viral research",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.73",
                "version_created": "2021-01-20T16:04:21.982539Z",
                "relevant_disorders": [
                    "Viral susceptibility"
                ],
                "stats": {
                    "number_of_genes": 691,
                    "number_of_strs": 0,
                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0912",
                    "SCKL5",
                    "MCPH9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29298",
                "gene_name": "centrosomal protein 152",
                "omim_gene": [
                    "613529"
                ],
                "alias_name": [
                    "asterless"
                ],
                "gene_symbol": "CEP152",
                "hgnc_symbol": "CEP152",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:49005125-49103343",
                            "ensembl_id": "ENSG00000103995"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48712928-48811146",
                            "ensembl_id": "ENSG00000103995"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-12-01"
            },
            "entity_type": "gene",
            "entity_name": "CEP152",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21131973"
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            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Seckel syndrome 5  613823"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 147,
                "hash_id": "5819a24f8f6203341de99c89",
                "name": "Cerebral vascular malformations",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Cerebrovascular disorders",
                "status": "public",
                "version": "2.8",
                "version_created": "2021-01-07T16:09:02.083221Z",
                "relevant_disorders": [
                    "Cerebrovascular disorders",
                    "Vein of Galen malformation",
                    "Cerebral arteriovenous malformations",
                    "Moyamoya disease",
                    "R336"
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                "stats": {
                    "number_of_genes": 103,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
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                        "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."
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                    {
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                "hgnc_date_symbol_changed": "1993-11-16"
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                "version": "1.27",
                "version_created": "2020-09-01T10:41:06.201531Z",
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "XPB",
                    "BTF2",
                    "RAD25",
                    "TFIIH",
                    "GTF2H"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3435",
                "gene_name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
                "omim_gene": [
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                "gene_symbol": "ERCC3",
                "hgnc_symbol": "ERCC3",
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                            "location": "2:128014866-128051752",
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
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                "disease_sub_group": "",
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                        "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": "Component Of Super Panel",
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                    "KIAA1987",
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                "gene_name": "SLX4 structure-specific endonuclease subunit",
                "omim_gene": [
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                "alias_name": [
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                "gene_symbol": "SLX4",
                "hgnc_symbol": "SLX4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    }
                },
                "hgnc_date_symbol_changed": "2010-09-13"
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            "entity_type": "gene",
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                "NHS GMS",
                "Expert List",
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
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            "phenotypes": [
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                "Fanconi anemia, complementation group P, 613951",
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                "version_created": "2020-12-02T12:40:48.377367Z",
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                    "Paediatric congenital malformation-dysmorphism-tumour syndromes",
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                    {
                        "name": "GMS Cancer Germline Virtual",
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                    {
                        "name": "GMS signed-off",
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                    },
                    {
                        "name": "GMS Rare Disease",
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                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
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                ]
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        {
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                "omim_gene": [
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                "hgnc_symbol": "SMPD1",
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                "ensembl_genes": {
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                            "location": "11:6411655-6416228",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
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                "Expert Review Amber"
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                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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            "penetrance": "Complete",
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                        "name": "Rare Disease 100K",
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        {
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                "biotype": "protein_coding",
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                        "name": "Cancer Germline 100K",
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                ]
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                "types": [
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                    {
                        "name": "GMS Cancer Germline Virtual",
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                    {
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        {
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                    {
                        "name": "GMS signed-off",
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                        "name": "GMS Rare Disease Virtual",
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                    {
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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                "version_created": "2021-01-04T12:27:46.855337Z",
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                        "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."
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "XPCT",
                    "MCT8",
                    "MCT7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10923",
                "gene_name": "solute carrier family 16 member 2",
                "omim_gene": [
                    "300095"
                ],
                "alias_name": null,
                "gene_symbol": "SLC16A2",
                "hgnc_symbol": "SLC16A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:73641085-73753752",
                            "ensembl_id": "ENSG00000147100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:74421461-74533917",
                            "ensembl_id": "ENSG00000147100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-04-22"
            },
            "entity_type": "gene",
            "entity_name": "SLC16A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "12871948",
                "14661163",
                "19194886"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Allan-Herndon-Dudley syndrome, 300523"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 568,
                "hash_id": null,
                "name": "Hereditary spastic paraplegia - childhood onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.25",
                "version_created": "2021-01-25T17:47:31.827069Z",
                "relevant_disorders": [
                    "Childhood onset hereditary spastic paraplegia",
                    "R61"
                ],
                "stats": {
                    "number_of_genes": 115,
                    "number_of_strs": 10,
                    "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 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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HHG2",
                    "BDA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5956",
                "gene_name": "indian hedgehog",
                "omim_gene": [
                    "600726"
                ],
                "alias_name": null,
                "gene_symbol": "IHH",
                "hgnc_symbol": "IHH",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:219919142-219925189",
                            "ensembl_id": "ENSG00000163501"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:219054420-219060467",
                            "ensembl_id": "ENSG00000163501"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-03-21"
            },
            "entity_type": "gene",
            "entity_name": "IHH",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
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            ],
            "phenotypes": [
                "Acrocapitofemoral dysplasia 607778",
                "Brachydactyly, type A1 112500"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
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                "hash_id": "5693952f22c1fc251660fb1e",
                "name": "Skeletal dysplasia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "2.76",
                "version_created": "2021-01-21T16:45:45.930321Z",
                "relevant_disorders": [
                    "Unexplained skeletal dysplasia",
                    "Skeletal dysplasia",
                    "R104"
                ],
                "stats": {
                    "number_of_genes": 582,
                    "number_of_strs": 1,
                    "number_of_regions": 6
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ENaCbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10600",
                "gene_name": "sodium channel epithelial 1 beta subunit",
                "omim_gene": [
                    "600760"
                ],
                "alias_name": [
                    "Liddle syndrome"
                ],
                "gene_symbol": "SCNN1B",
                "hgnc_symbol": "SCNN1B",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:23289552-23392620",
                            "ensembl_id": "ENSG00000168447"
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                    },
                    "GRch38": {
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                            "location": "16:23278231-23381299",
                            "ensembl_id": "ENSG00000168447"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-20"
            },
            "entity_type": "gene",
            "entity_name": "SCNN1B",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
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                "hash_id": "5693952f22c1fc251660fb1e",
                "name": "Skeletal dysplasia",
                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
                "status": "public",
                "version": "2.76",
                "version_created": "2021-01-21T16:45:45.930321Z",
                "relevant_disorders": [
                    "Unexplained skeletal dysplasia",
                    "Skeletal dysplasia",
                    "R104"
                ],
                "stats": {
                    "number_of_genes": 582,
                    "number_of_strs": 1,
                    "number_of_regions": 6
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NAG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15625",
                "gene_name": "neuroblastoma amplified sequence",
                "omim_gene": [
                    "608025"
                ],
                "alias_name": null,
                "gene_symbol": "NBAS",
                "hgnc_symbol": "NBAS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:15307032-15701454",
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                    "GRch38": {
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                            "location": "2:15166909-15561330",
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                    }
                },
                "hgnc_date_symbol_changed": "2009-02-16"
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            "entity_type": "gene",
            "entity_name": "NBAS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "27789416"
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            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "disease_group": "Skeletal disorders",
                "disease_sub_group": "Skeletal dysplasias",
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                "version": "2.76",
                "version_created": "2021-01-21T16:45:45.930321Z",
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                    "Unexplained skeletal dysplasia",
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                    "R104"
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                    "number_of_strs": 1,
                    "number_of_regions": 6
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EJM4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1404",
                "gene_name": "calcium voltage-gated channel auxiliary subunit beta 4",
                "omim_gene": [
                    "601949"
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                "alias_name": null,
                "gene_symbol": "CACNB4",
                "hgnc_symbol": "CACNB4",
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                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
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            "entity_type": "gene",
            "entity_name": "CACNB4",
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            "mode_of_pathogenicity": "",
            "publications": [
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                "Yorkshire and North East GLH",
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            "phenotypes": [
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                    "number_of_regions": 4
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                "types": [
                    {
                        "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."
                    },
                    {
                        "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."
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                    "MGC47890",
                    "SCAR10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25519",
                "gene_name": "anoctamin 10",
                "omim_gene": [
                    "613726"
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                "alias_name": null,
                "gene_symbol": "ANO10",
                "hgnc_symbol": "ANO10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2008-08-28"
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            "mode_of_pathogenicity": "",
            "publications": [
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                        "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)"
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                    {
                        "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."
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                    {
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                        "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."
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        },
        {
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                    "Atp12p",
                    "ATP12",
                    "LP3663",
                    "MGC29736"
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                "hgnc_id": "HGNC:18802",
                "gene_name": "ATP synthase mitochondrial F1 complex assembly factor 2",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "ATPAF2",
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                "ensembl_genes": {
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                ]
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29670",
                "gene_name": "N-acetylglucosamine-1-phosphate transferase alpha and beta subunits",
                "omim_gene": [
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                            "location": "12:102139275-102224716",
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "2005-09-11"
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            "entity_type": "gene",
            "entity_name": "GNPTAB",
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            "publications": [
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            "evidence": [
                "Expert Review Green",
                "Literature"
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            "phenotypes": [
                "Mucolipidosis II, I-cell disease (Other lysosomal disorders)",
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                "Mucolipidosis, Type III Alpha/Beta",
                "Mucolipidosis II alpha/beta",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 302,
                "hash_id": "5763f1518f620350a22bccdb",
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                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
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                "version_created": "2021-01-19T11:12:20.125730Z",
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                        "description": "Rare Disease 100K"
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                ]
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            "transcript": null
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        {
            "gene_data": {
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                    "MGA3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8142",
                "gene_name": "OPA3, outer mitochondrial membrane lipid metabolism regulator",
                "omim_gene": [
                    "606580"
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                "alias_name": null,
                "gene_symbol": "OPA3",
                "hgnc_symbol": "OPA3",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "ensembl_id": "ENSG00000125741"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-03-12"
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            "entity_type": "gene",
            "entity_name": "OPA3",
            "confidence_level": "3",
            "penetrance": "Complete",
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            "publications": [
                "27604308"
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            "evidence": [
                "Expert Review Green",
                "Literature"
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                "3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300"
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            "panel": {
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                "hash_id": "5763f1518f620350a22bccdb",
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                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Specific metabolic abnormalities",
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                "version": "1.440",
                "version_created": "2021-01-19T11:12:20.125730Z",
                "relevant_disorders": [
                    "Undiagnosed Metabolic Panel"
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                    "number_of_strs": 1,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
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        },
        {
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "611908"
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                "alias_name": [
                    "congenital disorder of glycosylation 1N"
                ],
                "gene_symbol": "RFT1",
                "hgnc_symbol": "RFT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "3:53122499-53164478",
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            "publications": [
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                "London North GLH",
                "NHS GMS",
                "Expert Review Green"
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                "Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)"
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            "panel": {
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
                    "R98"
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                },
                "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."
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                    {
                        "name": "Component Of Super Panel",
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                    {
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                        "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."
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                ]
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        {
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                "biotype": "protein_coding",
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                    "TEP1",
                    "PTEN1"
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                        "description": "Rare Disease 100K"
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        {
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                "alias_name": [
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                "gene_symbol": "AMELX",
                "hgnc_symbol": "AMELX",
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                "hgnc_date_symbol_changed": "1988-05-11"
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            "entity_type": "gene",
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            "evidence": [
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                "smooth hypoplastic AI"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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                "version_created": "2020-06-12T16:48:56.432446Z",
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                        "name": "GMS Rare Disease",
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                    },
                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
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                ]
            },
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        {
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                "hgnc_date_symbol_changed": "1986-01-01"
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                ]
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                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Bardet-Biedl syndrome 5, 209900",
                "BARDET-BIEDL SYNDROME TYPE 5 (BBS5)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CMPX1",
                    "ZNF4",
                    "ZNF5",
                    "dJ75N13.1",
                    "Zfp711",
                    "MRX97"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13128",
                "gene_name": "zinc finger protein 711",
                "omim_gene": [
                    "314990"
                ],
                "alias_name": null,
                "gene_symbol": "ZNF711",
                "hgnc_symbol": "ZNF711",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:84498997-84528368",
                            "ensembl_id": "ENSG00000147180"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:85244032-85273362",
                            "ensembl_id": "ENSG00000147180"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-06-29"
            },
            "entity_type": "gene",
            "entity_name": "ZNF711",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Victorian Clinical Genetics Services",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Mental Retardation, X-linked",
                "Mental retardation, X-linked 97, 300803",
                "MENTAL RETARDATION X-LINKED ZNF711-RELATED (MRXZ)"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ22104"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26167",
                "gene_name": "transmembrane protein 135",
                "omim_gene": [
                    "616360"
                ],
                "alias_name": null,
                "gene_symbol": "TMEM135",
                "hgnc_symbol": "TMEM135",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:86748886-87034800",
                            "ensembl_id": "ENSG00000166575"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:87037844-87323758",
                            "ensembl_id": "ENSG00000166575"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-09"
            },
            "entity_type": "gene",
            "entity_name": "TMEM135",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21937992"
            ],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [
                "AUTOSOMAL RECESSIVE MENTAL RETARDATION"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3321",
                "gene_name": "ELK1, ETS transcription factor",
                "omim_gene": [
                    "311040"
                ],
                "alias_name": null,
                "gene_symbol": "ELK1",
                "hgnc_symbol": "ELK1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:47494920-47510003",
                            "ensembl_id": "ENSG00000126767"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:47635521-47650604",
                            "ensembl_id": "ENSG00000126767"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "ELK1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "11186900",
                "26350204",
                "24896178",
                "11944989",
                "16969374"
            ],
            "evidence": [
                "Expert Review Red"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [
                "watchlist"
            ],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16808",
                "gene_name": "ubiquitin protein ligase E3 component n-recognin 1",
                "omim_gene": [
                    "605981"
                ],
                "alias_name": null,
                "gene_symbol": "UBR1",
                "hgnc_symbol": "UBR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:43235095-43398311",
                            "ensembl_id": "ENSG00000159459"
                        }
                    },
                    "GRch38": {
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                            "location": "15:42942897-43106113",
                            "ensembl_id": "ENSG00000159459"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-01-25"
            },
            "entity_type": "gene",
            "entity_name": "UBR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Johanson-Blizzard syndrome, 243800",
                "JOHANSON-BLIZZARD SYNDROME (JBS)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.740",
                "version_created": "2021-01-25T18:26:28.122186Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2452,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CAC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1421",
                "gene_name": "solute carrier family 25 member 20",
                "omim_gene": [
                    "613698"
                ],
                "alias_name": [
                    "carnitine-acylcarnitine carrier",
                    "carnitine/acylcarnitine translocase"
                ],
                "gene_symbol": "SLC25A20",
                "hgnc_symbol": "SLC25A20",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:48894369-48936426",
                            "ensembl_id": "ENSG00000178537"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "1997-08-18"
            },
            "entity_type": "gene",
            "entity_name": "SLC25A20",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS"
            ],
            "phenotypes": [
                "Carnitine-acylcarnitine translocase deficiency, 212138"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "panel": {
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                "disease_group": "Metabolic disorders",
                "disease_sub_group": "Mitochondrial",
                "status": "public",
                "version": "2.12",
                "version_created": "2020-11-16T16:20:06.853473Z",
                "relevant_disorders": [
                    "Lactic acidosis",
                    "All recognised syndromes and those with suggestive features"
                ],
                "stats": {
                    "number_of_genes": 469,
                    "number_of_strs": 2,
                    "number_of_regions": 1
                },
                "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": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PMCA3",
                    "CFAP39"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:816",
                "gene_name": "ATPase plasma membrane Ca2+ transporting 3",
                "omim_gene": [
                    "300014"
                ],
                "alias_name": [
                    "plasma membrane calcium-transporting ATPase 3",
                    "cilia and flagella associated protein 39"
                ],
                "gene_symbol": "ATP2B3",
                "hgnc_symbol": "ATP2B3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:152783134-152848397",
                            "ensembl_id": "ENSG00000067842"
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                    },
                    "GRch38": {
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                            "location": "X:153517676-153582939",
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                    }
                },
                "hgnc_date_symbol_changed": "1992-07-10"
            },
            "entity_type": "gene",
            "entity_name": "ATP2B3",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "London North GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH",
                "Hereditary ataxia v1.148"
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            "phenotypes": [
                "Spinocerebellar ataxia, X-linked 1",
                "X-linked spinocerebellar ataxia, 302500"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [],
            "panel": {
                "id": 466,
                "hash_id": null,
                "name": "Hereditary ataxia - adult onset",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "2.20",
                "version_created": "2021-01-07T16:10:06.645033Z",
                "relevant_disorders": [
                    "Hereditary ataxia with onset in adulthood",
                    "R54"
                ],
                "stats": {
                    "number_of_genes": 238,
                    "number_of_strs": 14,
                    "number_of_regions": 4
                },
                "types": [
                    {
                        "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."
                    },
                    {
                        "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 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."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ25179",
                    "p170"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23336",
                "gene_name": "alpha-2-macroglobulin like 1",
                "omim_gene": [
                    "610627"
                ],
                "alias_name": null,
                "gene_symbol": "A2ML1",
                "hgnc_symbol": "A2ML1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "12:8975068-9039597",
                            "ensembl_id": "ENSG00000166535"
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                    "GRch38": {
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                            "location": "12:8822472-8887001",
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                "hgnc_date_symbol_changed": "2005-09-01"
            },
            "entity_type": "gene",
            "entity_name": "A2ML1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
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                "27942422"
            ],
            "evidence": [
                "Expert Review Red",
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                "name": "RASopathies",
                "disease_group": "Dysmorphic and congenital abnormality syndromes",
                "disease_sub_group": "RASopathies",
                "status": "public",
                "version": "1.74",
                "version_created": "2020-11-24T12:14:13.268000Z",
                "relevant_disorders": [
                    "Cardio-facio-cutaneous syndrome",
                    "Costello syndrome",
                    "LEOPARD syndrome",
                    "Legius syndrome",
                    "Noonan syndrome",
                    "Noonan syndrome plus other features"
                ],
                "stats": {
                    "number_of_genes": 23,
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                    "number_of_regions": 1
                },
                "types": [
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
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                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HT013"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15865",
                "gene_name": "kizuna centrosomal protein",
                "omim_gene": [
                    "615757"
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                "alias_name": null,
                "gene_symbol": "KIZ",
                "hgnc_symbol": "KIZ",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:21106624-21227260",
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                    },
                    "GRch38": {
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                            "location": "20:21125983-21246622",
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                    "number_of_genes": 2691,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TFIID"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11588",
                "gene_name": "TATA-box binding protein",
                "omim_gene": [
                    "600075"
                ],
                "alias_name": null,
                "gene_symbol": "TBP",
                "hgnc_symbol": "TBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:170863390-170881958",
                            "ensembl_id": "ENSG00000112592"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:170554302-170572870",
                            "ensembl_id": "ENSG00000112592"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-05-26"
            },
            "entity_type": "str",
            "entity_name": "TBP_CAG",
            "confidence_level": "3",
            "penetrance": null,
            "publications": [
                "20301611"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 17 607136"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
            "chromosome": "6",
            "grch37_coordinates": [
                170870996,
                170871109
            ],
            "grch38_coordinates": [
                170561908,
                170562021
            ],
            "normal_repeats": 41,
            "pathogenic_repeats": 49,
            "tags": [
                "STR"
            ],
            "panel": {
                "id": 39,
                "hash_id": "58078e6e8f62030e233a8157",
                "name": "Parkinson Disease and Complex Parkinsonism",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodegenerative disorders",
                "status": "public",
                "version": "1.68",
                "version_created": "2020-05-15T16:16:26.075287Z",
                "relevant_disorders": [
                    "Complex Parkinsonism (includes pallido-pyramidal syndromes)",
                    "Early onset and familial Parkinson's Disease"
                ],
                "stats": {
                    "number_of_genes": 71,
                    "number_of_strs": 9,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "CST6",
                    "PME"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2482",
                "gene_name": "cystatin B",
                "omim_gene": [
                    "601145"
                ],
                "alias_name": [
                    "stefin B"
                ],
                "gene_symbol": "CSTB",
                "hgnc_symbol": "CSTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:45192393-45196326",
                            "ensembl_id": "ENSG00000160213"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:43772511-43776445",
                            "ensembl_id": "ENSG00000160213"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "entity_type": "str",
            "entity_name": "CSTB_CCCCGCCCCGCG",
            "confidence_level": "2",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert list"
            ],
            "phenotypes": [
                "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "repeated_sequence": "CCCCGCCCCGCG",
            "chromosome": "21",
            "grch37_coordinates": [
                45196328,
                45196351
            ],
            "grch38_coordinates": [
                43776429,
                43776470
            ],
            "normal_repeats": 30,
            "pathogenic_repeats": 30,
            "tags": [
                "STR",
                "for-review"
            ],
            "panel": {
                "id": 540,
                "hash_id": null,
                "name": "Adult onset movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.16",
                "version_created": "2020-11-20T16:04:22.346339Z",
                "relevant_disorders": [
                    "R56"
                ],
                "stats": {
                    "number_of_genes": 204,
                    "number_of_strs": 11,
                    "number_of_regions": 1
                },
                "types": [
                    {
                        "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."
                    },
                    {
                        "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."
                    }
                ]
            }
        }
    ]
}