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                "alias_name": [
                    "EMAP II",
                    "ARS-interacting multifunctional protein 1"
                ],
                "gene_symbol": "AIMP1",
                "hgnc_symbol": "AIMP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:107236701-107270383",
                            "ensembl_id": "ENSG00000164022"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:106315544-106349226",
                            "ensembl_id": "ENSG00000164022"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-05-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600"
            ],
            "entity_name": "AIMP1",
            "entity_type": "gene",
            "publications": [
                "21092922",
                "30477741",
                "30486714"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9722",
                "gene_name": "aldehyde dehydrogenase 18 family member A1",
                "omim_gene": [
                    "138250"
                ],
                "alias_name": null,
                "gene_symbol": "ALDH18A1",
                "hgnc_symbol": "ALDH18A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "10:97365696-97416463",
                            "ensembl_id": "ENSG00000059573"
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                    },
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                            "ensembl_id": "ENSG00000059573"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 9B, autosomal recessive 616586",
                "SPG9",
                "ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT",
                "Cutis laxa, autosomal dominant 3 616603",
                "Spastic paraplegia 9A, autosomal dominant 601162",
                "Cutis laxa, autosomal recessive, type IIIA 219150"
            ],
            "entity_name": "ALDH18A1",
            "entity_type": "gene",
            "publications": [
                "26026163",
                "26297558"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:443",
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                ],
                "alias_name": [
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                ],
                "gene_symbol": "ALS2",
                "hgnc_symbol": "ALS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "2:202565277-202645912",
                            "ensembl_id": "ENSG00000003393"
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                    },
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                            "ensembl_id": "ENSG00000003393"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-11-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paralysis, infantile onset ascending,autosomal recessive, 607225",
                "Primary lateral sclerosis, juvenile, autosomal recessive, 606353",
                "Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100"
            ],
            "entity_name": "ALS2",
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                "15247254",
                "27601211"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:572",
                "gene_name": "adaptor related protein complex 4 beta 1 subunit",
                "omim_gene": [
                    "607245"
                ],
                "alias_name": [
                    "beta 4 subunit of AP-4",
                    "AP-4 complex subunit beta-1"
                ],
                "gene_symbol": "AP4B1",
                "hgnc_symbol": "AP4B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:114437370-114447823",
                            "ensembl_id": "ENSG00000134262"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:113894748-113905201",
                            "ensembl_id": "ENSG00000134262"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 47, autosomal recessive, 614066"
            ],
            "entity_name": "AP4B1",
            "entity_type": "gene",
            "publications": [
                "21620353",
                "24700674"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "AP-4-EPSILON",
                    "SPG51"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:573",
                "gene_name": "adaptor related protein complex 4 epsilon 1 subunit",
                "omim_gene": [
                    "607244"
                ],
                "alias_name": null,
                "gene_symbol": "AP4E1",
                "hgnc_symbol": "AP4E1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "15:51200869-51298097",
                            "ensembl_id": "ENSG00000081014"
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                    },
                    "GRch38": {
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                            "location": "15:50908672-51005900",
                            "ensembl_id": "ENSG00000081014"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 51, autosomal recessive, 613744"
            ],
            "entity_name": "AP4E1",
            "entity_type": "gene",
            "publications": [
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                "23472171"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
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                    "MU-4",
                    "SPG50"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:574",
                "gene_name": "adaptor related protein complex 4 mu 1 subunit",
                "omim_gene": [
                    "602296"
                ],
                "alias_name": [
                    "mu-adaptin-related protein-2",
                    "mu subunit of AP-4",
                    "AP-4 adapter complex mu subunit",
                    "adaptor-related protein complex AP-4 mu4 subunit"
                ],
                "gene_symbol": "AP4M1",
                "hgnc_symbol": "AP4M1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:99699172-99707968",
                            "ensembl_id": "ENSG00000221838"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:100101549-100110345",
                            "ensembl_id": "ENSG00000221838"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 50, autosomal recessive, 612936"
            ],
            "entity_name": "AP4M1",
            "entity_type": "gene",
            "publications": [
                "19559397",
                "24700674",
                "29096665"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "CLA20",
                    "AP47B",
                    "SPG52"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:575",
                "gene_name": "adaptor related protein complex 4 sigma 1 subunit",
                "omim_gene": [
                    "607243"
                ],
                "alias_name": null,
                "gene_symbol": "AP4S1",
                "hgnc_symbol": "AP4S1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:31494312-31562818",
                            "ensembl_id": "ENSG00000100478"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:31025106-31096450",
                            "ensembl_id": "ENSG00000100478"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "developmental delay",
                "seizures",
                "Spastic paraplegia 52, autosomal recessive, 614067"
            ],
            "entity_name": "AP4S1",
            "entity_type": "gene",
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                "21620353",
                "27444738",
                "25552650"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "SPG48",
                    "zeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22197",
                "gene_name": "adaptor related protein complex 5 zeta 1 subunit",
                "omim_gene": [
                    "613653"
                ],
                "alias_name": null,
                "gene_symbol": "AP5Z1",
                "hgnc_symbol": "AP5Z1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:4815253-4833943",
                            "ensembl_id": "ENSG00000242802"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:4775622-4794312",
                            "ensembl_id": "ENSG00000242802"
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                    }
                },
                "hgnc_date_symbol_changed": "2012-03-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic Paraplegia, Recessive",
                "Spastic paraplegia 48, autosomal recessive, 613647",
                "Spastic paraplegia 48, autosomal recessive"
            ],
            "entity_name": "AP5Z1",
            "entity_type": "gene",
            "publications": [
                "27606357",
                "20613862",
                "24833714"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:663",
                "gene_name": "arginase 1",
                "omim_gene": [
                    "608313"
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                "alias_name": null,
                "gene_symbol": "ARG1",
                "hgnc_symbol": "ARG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:131894284-131905472",
                            "ensembl_id": "ENSG00000118520"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:131573144-131584332",
                            "ensembl_id": "ENSG00000118520"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Progressive spastic tetraplegia",
                "Argininaemia, 207800"
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            "entity_name": "ARG1",
            "entity_type": "gene",
            "publications": [
                "2365823",
                "1463019",
                "23859858"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "FSP1",
                    "AD-FSP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11231",
                "gene_name": "atlastin GTPase 1",
                "omim_gene": [
                    "606439"
                ],
                "alias_name": [
                    "atlastin"
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                "gene_symbol": "ATL1",
                "hgnc_symbol": "ATL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:50999227-51099786",
                            "ensembl_id": "ENSG00000198513"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50532509-50633068",
                            "ensembl_id": "ENSG00000198513"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-09-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 3A, 182600 autosomal dominant",
                "Spastic Paraplegia, Dominant",
                "Neuropathy, hereditary sensory, type ID, 613708"
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            "entity_name": "ATL1",
            "entity_type": "gene",
            "publications": [
                "11685207",
                "15517445"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "HSA9947",
                    "CLN12"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30213",
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                "omim_gene": [
                    "610513"
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                "alias_name": null,
                "gene_symbol": "ATP13A2",
                "hgnc_symbol": "ATP13A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:17312453-17338423",
                            "ensembl_id": "ENSG00000159363"
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                    },
                    "GRch38": {
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                            "location": "1:16985958-17011928",
                            "ensembl_id": "ENSG00000159363"
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                },
                "hgnc_date_symbol_changed": "2005-01-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Kufor-Rakeb syndrome, 606693 AR",
                "Adult-onset lower-limb predominant spastic paraparesis",
                "Spastic paraplegia 78, autosomal recessive, 617225",
                "complicated hereditary spastic paraplegia"
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            "entity_name": "ATP13A2",
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            "publications": [
                "28137957",
                "27217339",
                "27165006"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4117",
                "gene_name": "beta-1,4-N-acetyl-galactosaminyltransferase 1",
                "omim_gene": [
                    "601873"
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                "alias_name": [
                    "GD2 synthase, GM2 synthase"
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                "gene_symbol": "B4GALNT1",
                "hgnc_symbol": "B4GALNT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:58017193-58027138",
                            "ensembl_id": "ENSG00000135454"
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                    },
                    "GRch38": {
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                            "location": "12:57623410-57633355",
                            "ensembl_id": "ENSG00000135454"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-01-08"
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            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 26, autosomal recessive, 609195"
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            "entity_name": "B4GALNT1",
            "entity_type": "gene",
            "publications": [
                "23746551",
                "24283893"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15832",
                "gene_name": "BSCL2, seipin lipid droplet biogenesis associated",
                "omim_gene": [
                    "606158"
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                "alias_name": null,
                "gene_symbol": "BSCL2",
                "hgnc_symbol": "BSCL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:62457747-62477317",
                            "ensembl_id": "ENSG00000168000"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:62690275-62709845",
                            "ensembl_id": "ENSG00000168000"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-07-02"
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            "penetrance": null,
            "phenotypes": [
                "Silver spastic paraplegia syndrome, 270685"
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            "entity_name": "BSCL2",
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                "14981520",
                "17387721"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ38663",
                    "SPG55"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26784",
                "gene_name": "chromosome 12 open reading frame 65",
                "omim_gene": [
                    "613541"
                ],
                "alias_name": null,
                "gene_symbol": "C12orf65",
                "hgnc_symbol": "C12orf65",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:123717463-123742506",
                            "ensembl_id": "ENSG00000130921"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:123232916-123257959",
                            "ensembl_id": "ENSG00000130921"
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                },
                "hgnc_date_symbol_changed": "2007-02-26"
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            "penetrance": null,
            "phenotypes": [
                "optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy",
                "Combined oxidative phosphorylation deficiency 7, 613559",
                "Spastic paraplegia 55, autosomal recessive, 615035"
            ],
            "entity_name": "C12orf65",
            "entity_type": "gene",
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                "23188110",
                "24424123"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
                "alias": [
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                    "DKFZP762D096",
                    "NBIA4",
                    "MPAN"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25443",
                "gene_name": "chromosome 19 open reading frame 12",
                "omim_gene": [
                    "614297"
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                "alias_name": [
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                "hgnc_symbol": "C19orf12",
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                            "location": "19:30191721-30206364",
                            "ensembl_id": "ENSG00000131943"
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                    "GRch38": {
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                            "location": "19:29698886-29715789",
                            "ensembl_id": "ENSG00000131943"
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                            "location": "14:55308726-55369570",
                            "ensembl_id": "ENSG00000131979"
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                    },
                    "GRch38": {
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                            "location": "14:54842008-54902852",
                            "ensembl_id": "ENSG00000131979"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Dystonia",
                "progressive spastic paraplegia",
                "Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230",
                "Spastic paraplegia"
            ],
            "entity_name": "GCH1",
            "entity_type": "gene",
            "publications": [
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                "21935284"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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                "hgnc_symbol": "HACE1",
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                            "location": "6:105175968-105307794",
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                    },
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                            "ensembl_id": "ENSG00000085382"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-05-07"
            },
            "penetrance": null,
            "phenotypes": [
                "seizure",
                "Spastic paraplegia and psychomotor retardation with or without seizures, 616756",
                "psychomotor retardation",
                "Spastic paraplegia"
            ],
            "entity_name": "HACE1",
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                "26437029"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
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                    "HK4"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6220",
                "gene_name": "potassium voltage-gated channel subfamily A member 2",
                "omim_gene": [
                    "176262"
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                "hgnc_symbol": "KCNA2",
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                "ensembl_genes": {
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                            "location": "1:111136202-111174096",
                            "ensembl_id": "ENSG00000177301"
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                            "location": "1:110519837-110631474",
                            "ensembl_id": "ENSG00000177301"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Hereditary spastic paraplegia and ataxia"
            ],
            "entity_name": "KCNA2",
            "entity_type": "gene",
            "publications": [
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                "27543892",
                "28032718"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "XE169"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11114",
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                "omim_gene": [
                    "314690"
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                "alias_name": null,
                "gene_symbol": "KDM5C",
                "hgnc_symbol": "KDM5C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "X:53220503-53254604",
                            "ensembl_id": "ENSG00000126012"
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                    },
                    "GRch38": {
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                            "location": "X:53191321-53225422",
                            "ensembl_id": "ENSG00000126012"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-04-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Intellectual disability",
                "developmental delay",
                "epilepsy",
                "progressive spasticity",
                "Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534",
                "hypothyroidism"
            ],
            "entity_name": "KDM5C",
            "entity_type": "gene",
            "publications": [
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                "26919706",
                "15586325",
                "18697827"
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            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "ARMS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29508",
                "gene_name": "kinase D interacting substrate 220",
                "omim_gene": [
                    "615759"
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                "alias_name": [
                    "ankyrin repeat-rich membrane-spanning protein"
                ],
                "gene_symbol": "KIDINS220",
                "hgnc_symbol": "KIDINS220",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:8865408-8977760",
                            "ensembl_id": "ENSG00000134313"
                        }
                    },
                    "GRch38": {
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                            "location": "2:8721081-8837630",
                            "ensembl_id": "ENSG00000134313"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-11-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296"
            ],
            "entity_name": "KIDINS220",
            "entity_type": "gene",
            "publications": [
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                "29667355"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:888",
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                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "KIF1A",
                "hgnc_symbol": "KIF1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "2:241653181-241759725",
                            "ensembl_id": "ENSG00000130294"
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                    },
                    "GRch38": {
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                            "location": "2:240713764-240820308",
                            "ensembl_id": "ENSG00000130294"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-01-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 30, autosomal recessive, 610357",
                "Neuropathy, hereditary sensory, type IIC, 614213, AR",
                "Mental retardation, autosomal dominant 9, 614255, AD"
            ],
            "entity_name": "KIF1A",
            "entity_type": "gene",
            "publications": [
                "21487076",
                "22258533",
                "28362824"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
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                    "SPAX2",
                    "SPG58"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6317",
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                "omim_gene": [
                    "603060"
                ],
                "alias_name": null,
                "gene_symbol": "KIF1C",
                "hgnc_symbol": "KIF1C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "17:4901243-4931696",
                            "ensembl_id": "ENSG00000129250"
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                    },
                    "GRch38": {
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                            "location": "17:4997948-5028401",
                            "ensembl_id": "ENSG00000129250"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-09-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic ataxia 2, autosomal recessive, 611302",
                "Spastic ataxia 2, autosomal recessive"
            ],
            "entity_name": "KIF1C",
            "entity_type": "gene",
            "publications": [
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                "24319291",
                "17273843",
                "24808017"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "D12S1889",
                    "NKHC",
                    "MY050"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6323",
                "gene_name": "kinesin family member 5A",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "KIF5A",
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                "ensembl_genes": {
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                            "location": "12:57943781-57980415",
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000155980"
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                },
                "hgnc_date_symbol_changed": "1998-08-24"
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            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187"
            ],
            "entity_name": "KIF5A",
            "entity_type": "gene",
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                "16476820"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
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                ],
                "biotype": "protein_coding",
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                "omim_gene": [
                    "308840"
                ],
                "alias_name": [
                    "neural cell adhesion molecule L1"
                ],
                "gene_symbol": "L1CAM",
                "hgnc_symbol": "L1CAM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:153126969-153174677",
                            "ensembl_id": "ENSG00000198910"
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                    },
                    "GRch38": {
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                            "location": "X:153861514-153909223",
                            "ensembl_id": "ENSG00000198910"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Hereditary spastic paraplegia, 308840",
                "MASA syndrome, 303350",
                "X-linked hydrocephalus, 307000"
            ],
            "entity_name": "L1CAM",
            "entity_type": "gene",
            "publications": [
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                "7920660",
                "7562969"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "MGC35570"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17043",
                "gene_name": "non imprinted in Prader-Willi/Angelman syndrome 1",
                "omim_gene": [
                    "608145"
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                "alias_name": null,
                "gene_symbol": "NIPA1",
                "hgnc_symbol": "NIPA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:23043277-23100005",
                            "ensembl_id": "ENSG00000170113"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:22773063-22829791",
                            "ensembl_id": "ENSG00000170113"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-01-23"
            },
            "penetrance": null,
            "phenotypes": [
                "Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363"
            ],
            "entity_name": "NIPA1",
            "entity_type": "gene",
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                "14508710",
                "15643603"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "GTX",
                    "NKX6.1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19321",
                "gene_name": "NK6 homeobox 2",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "NKX6-2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "10:134598297-134599556",
                            "ensembl_id": "ENSG00000148826"
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                    },
                    "GRch38": {
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                            "location": "10:132783179-132786052",
                            "ensembl_id": "ENSG00000148826"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-10-03"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560"
            ],
            "entity_name": "NKX6-2",
            "entity_type": "gene",
            "publications": [
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                "15601927",
                "29388673"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "PNT5",
                    "GMP",
                    "cN-II",
                    "SPG65"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8022",
                "gene_name": "5'-nucleotidase, cytosolic II",
                "omim_gene": [
                    "600417"
                ],
                "alias_name": [
                    "purine 5' nucleotidase"
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                "gene_symbol": "NT5C2",
                "hgnc_symbol": "NT5C2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "10:104845940-104953056",
                            "ensembl_id": "ENSG00000076685"
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                    },
                    "GRch38": {
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                            "location": "10:103088017-103193306",
                            "ensembl_id": "ENSG00000076685"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-04-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Spasticparaplegia45, autosomal recessive, 613162",
                "Spastic paraplegia 45, autosomal recessive, 613162, AR"
            ],
            "entity_name": "NT5C2",
            "entity_type": "gene",
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                "28884889",
                "24482476",
                "29123918"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
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                    "FLJ22187",
                    "MGA3"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8142",
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                "omim_gene": [
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                "alias_name": null,
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                    },
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                "hgnc_date_symbol_changed": "1999-03-12"
            },
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            "phenotypes": [
                "3-methylglutaconic aciduria, type III, 258501",
                "Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD"
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            "entity_name": "OPA3",
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            "confidence_level": "3",
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                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": [
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                ],
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                "hgnc_symbol": "PLP1",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:103028647-103047548",
                            "ensembl_id": "ENSG00000123560"
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                    },
                    "GRch38": {
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                            "location": "X:103773718-103792619",
                            "ensembl_id": "ENSG00000123560"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 2, X-linked recessive, 312920"
            ],
            "entity_name": "PLP1",
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                "7488049"
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            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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                    "SPG39"
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                "hgnc_id": "HGNC:16268",
                "gene_name": "patatin like phospholipase domain containing 6",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "PNPLA6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:7598890-7626650",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:7534004-7561764",
                            "ensembl_id": "ENSG00000032444"
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                },
                "hgnc_date_symbol_changed": "2006-07-05"
            },
            "penetrance": null,
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                "Spastic paraplegia 39, autosomal recessive, 612020"
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            "entity_name": "PNPLA6",
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                "24355708",
                "23733235"
            ],
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            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH"
            ],
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                    "RPC155",
                    "hRPC155"
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                            "ensembl_id": "ENSG00000148606"
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                "Autosomal Recessive Ataxia"
            ],
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                "21855841",
                "28459997"
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            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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                    "S182",
                    "PS1"
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                "hgnc_id": "HGNC:9508",
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                "omim_gene": [
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                ],
                "alias_name": null,
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                "hgnc_release": "2017-11-03",
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                            "location": "14:73603126-73690399",
                            "ensembl_id": "ENSG00000080815"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:73136418-73223691",
                            "ensembl_id": "ENSG00000080815"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-11-05"
            },
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                "Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques",
                "Alzheimer disease, type 3, with spastic paraparesis and apraxia",
                "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques"
            ],
            "entity_name": "PSEN1",
            "entity_type": "gene",
            "publications": [
                "22517194"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
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                    "SPG31",
                    "Yip2a"
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                "hgnc_id": "HGNC:25786",
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                "omim_gene": [
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                ],
                "alias_name": [
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                ],
                "gene_symbol": "REEP1",
                "hgnc_symbol": "REEP1",
                "hgnc_release": "2017-11-03",
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                            "location": "2:86441116-86565206",
                            "ensembl_id": "ENSG00000068615"
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                    },
                    "GRch38": {
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                            "location": "2:86213993-86338083",
                            "ensembl_id": "ENSG00000068615"
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                "hgnc_date_symbol_changed": "2006-02-07"
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            "phenotypes": [
                "Spastic paraplegia 31, autosomal dominant, 610250"
            ],
            "entity_name": "REEP1",
            "entity_type": "gene",
            "publications": [
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                "18321925"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "SPG72",
                    "Yip2d"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17975",
                "gene_name": "receptor accessory protein 2",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "REEP2",
                "hgnc_symbol": "REEP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "5:137774706-137782658",
                            "ensembl_id": "ENSG00000132563"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:138439017-138446969",
                            "ensembl_id": "ENSG00000132563"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-02-07"
            },
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            "phenotypes": [
                "?Spastic paraplegia 72, autosomal dominant, 615625",
                "?Spastic paraplegia 72, autosomal dominant,615625",
                "?Spastic paraplegia 72, autosomal recessive, 615625"
            ],
            "entity_name": "REEP2",
            "entity_type": "gene",
            "publications": [
                "24388663",
                "28491902",
                "24482476"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "NSPL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10468",
                "gene_name": "reticulon 2",
                "omim_gene": [
                    "603183"
                ],
                "alias_name": [
                    "NSP-like protein 1",
                    "Neuroendocrine-specific protein-like 1"
                ],
                "gene_symbol": "RTN2",
                "hgnc_symbol": "RTN2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:45988547-46000319",
                            "ensembl_id": "ENSG00000125744"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45485289-45497061",
                            "ensembl_id": "ENSG00000125744"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-07-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 12, autosomal dominant, 604805"
            ],
            "entity_name": "RTN2",
            "entity_type": "gene",
            "publications": [
                "22232211",
                "24123792",
                "28362824"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "ARSACS",
                    "KIAA0730",
                    "DKFZp686B15167",
                    "DNAJC29",
                    "SPAX6",
                    "PPP1R138"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10519",
                "gene_name": "sacsin molecular chaperone",
                "omim_gene": [
                    "604490"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 138"
                ],
                "gene_symbol": "SACS",
                "hgnc_symbol": "SACS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:23902965-24007841",
                            "ensembl_id": "ENSG00000151835"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:23328826-23411513",
                            "ensembl_id": "ENSG00000151835"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-11-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic ataxia, Charlevoix-Saguenay type, 270550"
            ],
            "entity_name": "SACS",
            "entity_type": "gene",
            "publications": [
                "10655055",
                "20876471"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14917"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21061",
                "gene_name": "serine active site containing 1",
                "omim_gene": [
                    "614725"
                ],
                "alias_name": null,
                "gene_symbol": "SERAC1",
                "hgnc_symbol": "SERAC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "6:158530536-158589312",
                            "ensembl_id": "ENSG00000122335"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000122335"
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            },
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                "MEGDEL syndrome",
                "3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome",
                "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739",
                "MEGDHEL syndrome"
            ],
            "entity_name": "SERAC1",
            "entity_type": "gene",
            "publications": [
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                "22683713",
                "16527507",
                "28482397",
                "28778788",
                "27186703",
                "27604308"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "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"
            },
            "penetrance": null,
            "phenotypes": [
                "Allan-Herndon-Dudley syndrome, 300523, XL"
            ],
            "entity_name": "SLC16A2",
            "entity_type": "gene",
            "publications": [
                "14661163",
                "19194886"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "SATT",
                    "ASCT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10942",
                "gene_name": "solute carrier family 1 member 4",
                "omim_gene": [
                    "600229"
                ],
                "alias_name": [
                    "alanine/serine/cysteine/threonine transporter"
                ],
                "gene_symbol": "SLC1A4",
                "hgnc_symbol": "SLC1A4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:65215611-65250999",
                            "ensembl_id": "ENSG00000115902"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:64988477-65023865",
                            "ensembl_id": "ENSG00000115902"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657"
            ],
            "entity_name": "SLC1A4",
            "entity_type": "gene",
            "publications": [
                "29989513",
                "27193218",
                "26138499",
                "26041762",
                "25930971"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0610",
                    "TAHCCP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18514",
                "gene_name": "spartin",
                "omim_gene": [
                    "607111"
                ],
                "alias_name": [
                    "spartin"
                ],
                "gene_symbol": "SPART",
                "hgnc_symbol": "SPART",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:36875775-36944317",
                            "ensembl_id": "ENSG00000133104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:36301638-36370180",
                            "ensembl_id": "ENSG00000133104"
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                    }
                },
                "hgnc_date_symbol_changed": "2017-05-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Troyer syndrome",
                "Spastic paraplegia 20, autosomal recessive"
            ],
            "entity_name": "SPART",
            "entity_type": "gene",
            "publications": [
                "12134148",
                "18413476",
                "26003402",
                "20301556"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "FSP2",
                    "ADPSP",
                    "KIAA1083"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11233",
                "gene_name": "spastin",
                "omim_gene": [
                    "604277"
                ],
                "alias_name": null,
                "gene_symbol": "SPAST",
                "hgnc_symbol": "SPAST",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:32288680-32382706",
                            "ensembl_id": "ENSG00000021574"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:32063611-32157637",
                            "ensembl_id": "ENSG00000021574"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 4, autosomal dominant, 182601"
            ],
            "entity_name": "SPAST",
            "entity_type": "gene",
            "publications": [
                "16240363",
                "15248095"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ21439"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11226",
                "gene_name": "SPG11, spatacsin vesicle trafficking associated",
                "omim_gene": [
                    "610844"
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                "alias_name": [
                    "spatacsin"
                ],
                "gene_symbol": "SPG11",
                "hgnc_symbol": "SPG11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:44854894-44955876",
                            "ensembl_id": "ENSG00000104133"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:44562696-44663678",
                            "ensembl_id": "ENSG00000104133"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 11, autosomal recessive, 604360",
                "Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR",
                "Amyotrophic lateral sclerosis 5, juvenile, 602099, AR"
            ],
            "entity_name": "SPG11",
            "entity_type": "gene",
            "publications": [
                "17322883",
                "17717710",
                "18067136",
                "19194956"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "ACP33",
                    "GL010",
                    "BM-019",
                    "MAST"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20373",
                "gene_name": "SPG21, maspardin",
                "omim_gene": [
                    "608181"
                ],
                "alias_name": null,
                "gene_symbol": "SPG21",
                "hgnc_symbol": "SPG21",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:65255362-65282648",
                            "ensembl_id": "ENSG00000090487"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:64963021-64990310",
                            "ensembl_id": "ENSG00000090487"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Mast syndrome, 248900",
                "Spastic Paraplegia, autosomal recessive"
            ],
            "entity_name": "SPG21",
            "entity_type": "gene",
            "publications": [
                "14564668",
                "28752238",
                "24451228"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "CAR",
                    "SPG5C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11237",
                "gene_name": "SPG7, paraplegin matrix AAA peptidase subunit",
                "omim_gene": [
                    "602783"
                ],
                "alias_name": [
                    "paraplegin"
                ],
                "gene_symbol": "SPG7",
                "hgnc_symbol": "SPG7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:89557325-89624176",
                            "ensembl_id": "ENSG00000197912"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:89490917-89557768",
                            "ensembl_id": "ENSG00000197912"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-06-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 7, autosomal recessive, 607259"
            ],
            "entity_name": "SPG7",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "South West GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
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                    "FLJ36137",
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                "Expert Review Green",
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                "London North GLH"
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                "Dystonia 4, torsion, autosomal dominant, 128101",
                "ataxia",
                "Leukodystrophy, hypomyelinating, 612438 AD"
            ],
            "entity_name": "TUBB4A",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "London North GLH",
                "NHS GMS",
                "Yorkshire and North East GLH",
                "Expert Review Green",
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            ],
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                    },
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            },
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                "Hereditary spastic paraplegia"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": null
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
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                    "Uch-L1"
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "191342"
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                ],
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                "hgnc_symbol": "UCHL1",
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                "ensembl_genes": {
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                            "location": "4:41258430-41270472",
                            "ensembl_id": "ENSG00000154277"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:41256413-41268455",
                            "ensembl_id": "ENSG00000154277"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-07-15"
            },
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                "Spastic paraplegia 79, autosomal recessive, 615491, AR"
            ],
            "entity_name": "UCHL1",
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                "28007905",
                "23359680"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28984",
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                "omim_gene": [
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                ],
                "alias_name": [
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                ],
                "gene_symbol": "WASHC5",
                "hgnc_symbol": "WASHC5",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:126036502-126104082",
                            "ensembl_id": "ENSG00000164961"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:125024260-125091840",
                            "ensembl_id": "ENSG00000164961"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-10-14"
            },
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            "phenotypes": [
                "Spastic paraplegia 8, autosomal dominant, 603563"
            ],
            "entity_name": "WASHC5",
            "entity_type": "gene",
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                "17160902",
                "23455931"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25072",
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                "omim_gene": [
                    "609226"
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                "alias_name": null,
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                "hgnc_symbol": "WDR45B",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2013-01-11"
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            "phenotypes": [
                "Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977"
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            "entity_name": "WDR45B",
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            "publications": [
                "21937992",
                "28503735"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London North GLH"
            ],
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20761",
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                "omim_gene": [
                    "612012"
                ],
                "alias_name": [
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                    "FYVE-CENT"
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                "hgnc_symbol": "ZFYVE26",
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                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000072121"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000072121"
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                },
                "hgnc_date_symbol_changed": "2003-04-01"
            },
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            "phenotypes": [
                "Spastic paraplegia 15, autosomal recessive, 270700"
            ],
            "entity_name": "ZFYVE26",
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                "18394578",
                "19805727"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "South West GLH",
                "NHS GMS",
                "London North GLH"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:469",
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                "omim_gene": [
                    "102771"
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                "alias_name": [
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                "gene_symbol": "AMPD2",
                "hgnc_symbol": "AMPD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:110158726-110174673",
                            "ensembl_id": "ENSG00000116337"
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                    },
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            "phenotypes": [
                "?Spastic paraplegia 63, 615686, AR",
                "Hereditary Spastic Paraplegia?",
                "Pontocerebellar hypoplasia, type 9, 615809, AR",
                "Pontocerebellar hypolplasia (biallelic)"
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            "entity_name": "AMPD2",
            "entity_type": "gene",
            "publications": [
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                "24482476",
                "27159321"
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            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "South West GLH"
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                    "KIAA0069",
                    "SPG61"
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                "hgnc_id": "HGNC:697",
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                "omim_gene": [
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                    },
                    "GRch38": {
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                            "location": "16:18791667-18801678",
                            "ensembl_id": "ENSG00000170540"
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                "hgnc_date_symbol_changed": "2006-09-26"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 61, autosomal recessive, 615685"
            ],
            "entity_name": "ARL6IP1",
            "entity_type": "gene",
            "publications": [
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                "28471035"
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            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "CPTIC",
                    "CPT1P"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18540",
                "gene_name": "carnitine palmitoyltransferase 1C",
                "omim_gene": [
                    "608846"
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                "alias_name": null,
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                "hgnc_symbol": "CPT1C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "19:50194155-50216988",
                            "ensembl_id": "ENSG00000169169"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:49690898-49713731",
                            "ensembl_id": "ENSG00000169169"
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                },
                "hgnc_date_symbol_changed": "2003-11-27"
            },
            "penetrance": null,
            "phenotypes": [
                "?Spastic paraplegia 73, autosomal dominant, 616282"
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            "entity_name": "CPT1C",
            "entity_type": "gene",
            "publications": [
                "25751282",
                "30564185"
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            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "South West GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0472",
                    "DustyPK",
                    "RIP5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29043",
                "gene_name": "dual serine/threonine and tyrosine protein kinase",
                "omim_gene": [
                    "612666"
                ],
                "alias_name": null,
                "gene_symbol": "DSTYK",
                "hgnc_symbol": "DSTYK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:205111632-205180727",
                            "ensembl_id": "ENSG00000133059"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:205142505-205211566",
                            "ensembl_id": "ENSG00000133059"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-12-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 23, 270750, AR",
                "Spastic paraplegia 23, 270750",
                "Congenital anomalies of kidney and urinary tract 1, 610805, AD"
            ],
            "entity_name": "DSTYK",
            "entity_type": "gene",
            "publications": [
                "28157540"
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            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Yorkshire and North East GLH",
                "Expert Review Amber",
                "South West GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4092",
                "gene_name": "glutamate decarboxylase 1",
                "omim_gene": [
                    "605363"
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                "alias_name": null,
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                "hgnc_symbol": "GAD1",
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                "ensembl_genes": {
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                            "location": "2:171669723-171717661",
                            "ensembl_id": "ENSG00000128683"
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                    },
                    "GRch38": {
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                            "location": "2:170813213-170861151",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "penetrance": null,
            "phenotypes": [
                "Cerebralpalsy, spasticquadriplegic,1, 603513"
            ],
            "entity_name": "GAD1",
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                "15571623, 28454995"
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "South West GLH",
                "NHS GMS",
                "London North GLH"
            ],
            "gene_data": {
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                    "CX46.6",
                    "SPG44"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17494",
                "gene_name": "gap junction protein gamma 2",
                "omim_gene": [
                    "608803"
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                "alias_name": [
                    "connexin 47"
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                "gene_symbol": "GJC2",
                "hgnc_symbol": "GJC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:228337553-228347527",
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                    },
                    "GRch38": {
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                            "location": "1:228149852-228159826",
                            "ensembl_id": "ENSG00000198835"
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                },
                "hgnc_date_symbol_changed": "2007-11-06"
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            "phenotypes": [
                "Spastic paraplegia 44, autosomal recessive",
                "Spastic paraplegia 44, autosomal recessive 613206, AR",
                "Leukodystrophy, hypomyelinating, 2, 608804, AR"
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            "entity_name": "GJC2",
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                "Orthmann-Murphy et al. (2009)",
                "19056803"
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "Expert Review Amber",
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                "London North GLH"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5261",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "HSPD1",
                "hgnc_symbol": "HSPD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "2:198351305-198381461",
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1991-07-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233",
                "Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280"
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            "entity_name": "HSPD1",
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            "publications": [
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            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "South West GLH",
                "NHS GMS",
                "London North GLH"
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "615316"
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                "alias_name": [
                    "iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"
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                "gene_symbol": "IBA57",
                "hgnc_symbol": "IBA57",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:228353516-228369958",
                            "ensembl_id": "ENSG00000181873"
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                    },
                    "GRch38": {
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                            "location": "1:228165815-228182257",
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                },
                "hgnc_date_symbol_changed": "2011-03-11"
            },
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            "phenotypes": [
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            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "Yorkshire and North East GLH",
                "South West GLH"
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            "gene_data": {
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                "gene_name": "RAB3 GTPase activating non-catalytic protein subunit 2",
                "omim_gene": [
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                "hgnc_symbol": "RAB3GAP2",
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                "ensembl_genes": {
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                            "location": "1:220321635-220445796",
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                "hgnc_date_symbol_changed": "2005-08-23"
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                "Warburg micro syndrome 2, 614225"
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                "24482476"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Yorkshire and North East GLH",
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                "London North GLH"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25198",
                "gene_name": "solute carrier family 25 member 46",
                "omim_gene": [
                    "610826"
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                "alias_name": null,
                "gene_symbol": "SLC25A46",
                "hgnc_symbol": "SLC25A46",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:110073837-110100857",
                            "ensembl_id": "ENSG00000164209"
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                "hgnc_date_symbol_changed": "2006-09-21"
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            "penetrance": null,
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                "Neuropathy, hereditary motor and sensory, type VIB, 616505"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Red",
                "Yorkshire and North East GLH",
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                "NHS GMS",
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            "gene_data": {
                "alias": [
                    "AT-1",
                    "AT1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:95",
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                "omim_gene": [
                    "603690"
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                "alias_name": null,
                "gene_symbol": "SLC33A1",
                "hgnc_symbol": "SLC33A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:155538813-155572218",
                            "ensembl_id": "ENSG00000169359"
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                    "GRch38": {
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                            "location": "3:155821024-155854429",
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                "hgnc_date_symbol_changed": "2002-12-06"
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            "penetrance": null,
            "phenotypes": [
                "Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD",
                "Spastic paraplegia 42, autosomal dominant"
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                "Lin et al. (2008)",
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                "25402622"
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            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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        {
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                    "SPG59"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12631",
                "gene_name": "ubiquitin specific peptidase 8",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "USP8",
                "hgnc_symbol": "USP8",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:50716577-50793280",
                            "ensembl_id": "ENSG00000138592"
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                "hgnc_date_symbol_changed": "1999-02-01"
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            "penetrance": null,
            "phenotypes": [],
            "entity_name": "USP8",
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                "Novarino et al. (2014)",
                "24482476"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Yorkshire and North East GLH",
                "South West GLH"
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            "gene_data": {
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                    "KIAA0569",
                    "SIP-1",
                    "SIP1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14881",
                "gene_name": "zinc finger E-box binding homeobox 2",
                "omim_gene": [
                    "605802"
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                "alias_name": [
                    "SMAD interacting protein 1"
                ],
                "gene_symbol": "ZEB2",
                "hgnc_symbol": "ZEB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:145141648-145282147",
                            "ensembl_id": "ENSG00000169554"
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "2007-02-15"
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            "entity_name": "ZEB2",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Yorkshire and North East GLH",
                "South West GLH"
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            "gene_data": {
                "alias": [
                    "FLJ32919",
                    "SPG33"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26559",
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                "omim_gene": [
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                "alias_name": [
                    "protrudin"
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                "gene_symbol": "ZFYVE27",
                "hgnc_symbol": "ZFYVE27",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:99496878-99520664",
                            "ensembl_id": "ENSG00000155256"
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "2004-03-05"
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            "phenotypes": [
                "Spastic paraplegia 33, autosomal dominant"
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            "entity_name": "ZFYVE27",
            "entity_type": "gene",
            "publications": [
                "Mannan AU (2006)",
                "16826525",
                "22554690",
                "29980238"
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            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
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    ],
    "stats": {
        "number_of_strs": 10,
        "number_of_genes": 97,
        "number_of_regions": 0
    },
    "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."
        }
    ],
    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.0",
    "disease_group": "",
    "version_created": "2019-10-18T14:52:18.208596Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R60"
    ]
}