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        {
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                "Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3"
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
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                "Expert Review Green",
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                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen"
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                    "AP-4 complex subunit beta-1"
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        },
        {
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                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen"
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            "mode_of_pathogenicity": ""
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        {
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                "NHS GMS",
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                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen"
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                    "mu subunit of AP-4",
                    "AP-4 adapter complex mu subunit",
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                "Spastic paraplegia 50, autosomal recessive, 612936"
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            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
                "Expert list",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
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                "seizures",
                "Spastic paraplegia 52, autosomal recessive, 614067"
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        {
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            "phenotypes": [
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                "Spastic paraplegia 48, autosomal recessive"
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        },
        {
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                "complicated hereditary spastic paraplegia"
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        {
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                "NHS GMS",
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                "alias_name": [
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            "phenotypes": [
                "Friedreich ataxia, 229300"
            ],
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            "mode_of_pathogenicity": null
        },
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            "entity_name": "GBA2",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
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            ],
            "gene_data": {
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                    "DYT5a"
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                "alias_name": [
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                "hgnc_symbol": "GCH1",
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                            "ensembl_id": "ENSG00000131979"
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                    },
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                            "ensembl_id": "ENSG00000131979"
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                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
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            "phenotypes": [
                "Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230",
                "Dystonia",
                "progressive spastic paraplegia",
                "Spastic paraplegia"
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            "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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                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
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                "hgnc_id": "HGNC:21033",
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                "omim_gene": [
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                "gene_symbol": "HACE1",
                "hgnc_symbol": "HACE1",
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                    },
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            "phenotypes": [
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                "Spastic paraplegia",
                "seizure",
                "psychomotor retardation"
            ],
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                "26437029"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Green",
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                "London North GLH"
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                },
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            },
            "penetrance": null,
            "phenotypes": [
                "hereditary spastic paraplegia and ataxia"
            ],
            "entity_name": "KCNA2",
            "entity_type": "gene",
            "publications": [
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                "28032718"
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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",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Literature"
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                    "XE169"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11114",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "KDM5C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    }
                },
                "hgnc_date_symbol_changed": "2009-04-06"
            },
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            "phenotypes": [
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                "developmental delay",
                "epilepsy",
                "progressive spasticity",
                "Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534",
                "hypothyroidism"
            ],
            "entity_name": "KDM5C",
            "entity_type": "gene",
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                "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)",
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        },
        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29508",
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                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "KIDINS220",
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            "penetrance": null,
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                "Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296"
            ],
            "entity_name": "KIDINS220",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "London North GLH",
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                "Expert Review Green",
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                "omim_gene": [
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            "phenotypes": [
                "Spastic paraplegia 30, autosomal recessive, 610357",
                "Mental retardation, autosomal dominant 9, 614255, AD",
                "Neuropathy, hereditary sensory, type IIC, 614213"
            ],
            "entity_name": "KIF1A",
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                "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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                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert list",
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                    "SPG58"
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                "omim_gene": [
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            "phenotypes": [
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            ],
            "entity_name": "KIF1C",
            "entity_type": "gene",
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                "24319291"
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        {
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                "NHS GMS",
                "London North GLH",
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                "Expert Review Green",
                "Expert list",
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                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
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                    "NKHC",
                    "MY050"
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                "hgnc_id": "HGNC:6323",
                "gene_name": "kinesin family member 5A",
                "omim_gene": [
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                "alias_name": null,
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                    },
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            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 10, autosomal dominant, 604187"
            ],
            "entity_name": "KIF5A",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
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                "UKGTN"
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            "gene_data": {
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "308840"
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                "alias_name": [
                    "neural cell adhesion molecule L1"
                ],
                "gene_symbol": "L1CAM",
                "hgnc_symbol": "L1CAM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "1989-06-30"
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            "penetrance": null,
            "phenotypes": [
                "Hereditary spastic paraplegia",
                "X-linked hydrocephalus, MASA syndrome, 303350"
            ],
            "entity_name": "L1CAM",
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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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                "NHS GMS",
                "London North GLH",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert Review Green",
                "Expert list",
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            "gene_data": {
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                "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,
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                "hgnc_symbol": "NIPA1",
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                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000170113"
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                "hgnc_date_symbol_changed": "2004-01-23"
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            "phenotypes": [
                "Spastic paraplegia 6, autosomal dominant, 600363"
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            "entity_name": "NIPA1",
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            "confidence_level": "3",
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        {
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                    "NKX6.1"
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            "phenotypes": [
                "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560"
            ],
            "entity_name": "NKX6-2",
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        },
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                "Expert Review Green",
                "Expert list",
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                    "GMP",
                    "cN-II",
                    "SPG65"
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                    "600417"
                ],
                "alias_name": [
                    "purine 5' nucleotidase"
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                "hgnc_symbol": "NT5C2",
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                "ensembl_genes": {
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                            "location": "10:104845940-104953056",
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                    },
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                "hgnc_date_symbol_changed": "2002-04-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Spastic paraplegia 45, autosomal recessive, 613162"
            ],
            "entity_name": "NT5C2",
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                "29123918"
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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",
                "NHS GMS",
                "London North GLH",
                "Literature",
                "Expert Review Green",
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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": [
                    "606580"
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                "alias_name": null,
                "gene_symbol": "OPA3",
                "hgnc_symbol": "OPA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "19:46030685-46105470",
                            "ensembl_id": "ENSG00000125741"
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                    },
                    "GRch38": {
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                            "location": "19:45527427-45602212",
                            "ensembl_id": "ENSG00000125741"
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                },
                "hgnc_date_symbol_changed": "1999-03-12"
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                "Spastic paraplegia 31, autosomal dominant, 610250"
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            "mode_of_pathogenicity": ""
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                "London North GLH",
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                "24482476"
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            "entity_name": "RTN2",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
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        {
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                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
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                "3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome",
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                "London North GLH",
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                    "MCT7"
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            "phenotypes": [
                "Allan-Herndon-Dudley syndrome, 300523"
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            "entity_name": "SLC16A2",
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                "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657"
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                "Troyer syndrome, 275900",
                "Spastic paraplegia 20"
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        "number_of_regions": 0
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        {
            "name": "GMS Rare Disease Virtual",
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            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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    "version_created": "2019-10-18T15:35:29.380584Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "Childhood onset hereditary spastic paraplegia; R61"
    ]
}