Search STRs

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                "alias": [
                    "FA",
                    "FARR",
                    "X25",
                    "CyaY"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3951",
                "gene_name": "frataxin",
                "omim_gene": [
                    "606829"
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                "alias_name": null,
                "gene_symbol": "FXN",
                "hgnc_symbol": "FXN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:71650175-71715094",
                            "ensembl_id": "ENSG00000165060"
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                            "location": "9:69035259-69100178",
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                "hgnc_date_symbol_changed": "2004-08-19"
            },
            "entity_type": "str",
            "entity_name": "FXN_GAA",
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            "penetrance": null,
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                "NHS GMS",
                "South West GLH",
                "London North GLH",
                "Expert Review Green",
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                "Friedreich ataxia 229300"
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
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        },
        {
            "gene_data": {
                "alias": [
                    "IT15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4851",
                "gene_name": "huntingtin",
                "omim_gene": [
                    "613004"
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                "alias_name": null,
                "gene_symbol": "HTT",
                "hgnc_symbol": "HTT",
                "hgnc_release": "2017-11-03",
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                        "82": {
                            "location": "4:3076408-3245676",
                            "ensembl_id": "ENSG00000197386"
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                            "location": "4:3074681-3243959",
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                },
                "hgnc_date_symbol_changed": "2007-12-04"
            },
            "entity_type": "str",
            "entity_name": "HTT_CAG",
            "confidence_level": "0",
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            "evidence": [
                "Expert Review Removed",
                "NHS GMS",
                "South West GLH",
                "London North GLH",
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                "Huntington disease 143100"
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            "grch38_coordinates": [
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                "STR"
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                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
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                "alias": [
                    "D6S504E",
                    "ATX1"
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                "hgnc_id": "HGNC:10548",
                "gene_name": "ataxin 1",
                "omim_gene": [
                    "601556"
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                "alias_name": null,
                "gene_symbol": "ATXN1",
                "hgnc_symbol": "ATXN1",
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                            "location": "6:16299343-16761722",
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                "hgnc_date_symbol_changed": "2004-08-13"
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            "entity_type": "str",
            "entity_name": "ATXN1_CAG",
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                "NHS GMS",
                "South West GLH",
                "London North GLH",
                "Expert Review Green",
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                "Spinocerebellar ataxia 1 164400"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
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            "grch38_coordinates": [
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
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        },
        {
            "gene_data": {
                "alias": [
                    "OPCA3",
                    "ADCAII"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10560",
                "gene_name": "ataxin 7",
                "omim_gene": [
                    "607640"
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                "alias_name": null,
                "gene_symbol": "ATXN7",
                "hgnc_symbol": "ATXN7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:63850233-63989138",
                            "ensembl_id": "ENSG00000163635"
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                            "location": "3:63864557-64003462",
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                },
                "hgnc_date_symbol_changed": "2004-08-12"
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            "entity_type": "str",
            "entity_name": "ATXN7_CAG",
            "confidence_level": "3",
            "penetrance": null,
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                "NHS GMS",
                "South West GLH",
                "London North GLH",
                "Expert Review Green",
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                "Spinocerebellar ataxia 7 164500"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "STR"
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
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                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "E46L",
                    "FLJ37990"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10549",
                "gene_name": "ataxin 10",
                "omim_gene": [
                    "611150"
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                "alias_name": null,
                "gene_symbol": "ATXN10",
                "hgnc_symbol": "ATXN10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "22:46067678-46241187",
                            "ensembl_id": "ENSG00000130638"
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                    },
                    "GRch38": {
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                            "location": "22:45671798-45845307",
                            "ensembl_id": "ENSG00000130638"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "entity_type": "str",
            "entity_name": "ATXN10_ATTCT",
            "confidence_level": "2",
            "penetrance": null,
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                "Expert Review Amber",
                "NHS GMS",
                "South West GLH",
                "London North GLH",
                "Expert list"
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            "phenotypes": [
                "Spinocerebellar ataxia 10 603516"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "ATTCT",
            "chromosome": "22",
            "grch37_coordinates": [
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                46191304
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                "for-review",
                "STR"
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                ]
            }
        },
        {
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                    "JOS"
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                "hgnc_id": "HGNC:7106",
                "gene_name": "ataxin 3",
                "omim_gene": [
                    "607047"
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                "alias_name": null,
                "gene_symbol": "ATXN3",
                "hgnc_symbol": "ATXN3",
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                "ensembl_genes": {
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            "entity_type": "str",
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                "NHS GMS",
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                "Machado-Joseph disease 109150"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "types": [
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
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                ]
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        },
        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11588",
                "gene_name": "TATA-box binding protein",
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                "alias_name": null,
                "gene_symbol": "TBP",
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                            "location": "6:170863390-170881958",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1993-05-26"
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                    {
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
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        },
        {
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                "alias_name": [
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                    "Kennedy disease"
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                "hgnc_symbol": "AR",
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                            "location": "X:66764465-66950461",
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                    },
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "London North GLH",
                "Expert Review Green",
                "Expert list"
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                "Spinal and bulbar muscular atrophy or Kennedy diseases 313200"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
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                "disease_sub_group": "",
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                "version_created": "2021-09-01T09:18:44.438964Z",
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                    "Adult onset neurodegenerative disorder"
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                "types": [
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
                        "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    "ADCAII"
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                "Expert Review Removed",
                "Expert list"
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                "STR"
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                "disease_group": "Metabolic disorders",
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                "version": "1.486",
                "version_created": "2021-09-02T17:04:20.861156Z",
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                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    "FARR",
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                    "CyaY"
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                "hgnc_id": "HGNC:3951",
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                "hgnc_symbol": "FXN",
                "hgnc_release": "2017-11-03",
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            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
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                "Friedreich ataxia OMIM:229300",
                "Friedreich ataxia with retained reflexes OMIM:229300",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "name": "Inborn errors of metabolism",
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                "disease_sub_group": "",
                "status": "public",
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                "version_created": "2021-09-02T17:04:38.837988Z",
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                    "Likely inborn error of metabolism - targeted testing not possible",
                    "Likely inborn error of metabolism",
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                "types": [
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        },
        {
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                    "KIAA0838",
                    "GLS1"
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "GLS",
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                "ensembl_genes": {
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                            "location": "2:191745553-191830278",
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                "Expert Review Red",
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            "tags": [
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                "NGS Not Validated",
                "for-review"
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            "panel": {
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                    "Likely inborn error of metabolism",
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                "types": [
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    {
                        "name": "Component Of Super Panel",
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                        "description": "This panel is a component of a Super Panel"
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                    {
                        "name": "GMS signed-off",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        {
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                "Expert Review Green",
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                    "Likely inborn error of metabolism",
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                        "name": "GMS Rare Disease Virtual",
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                    {
                        "name": "Component Of Super Panel",
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                "Q3_21_rating",
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            "panel": {
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                "STR"
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                    },
                    {
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                    {
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                ]
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        },
        {
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                    "EA2",
                    "APCA",
                    "HPCA",
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                "hgnc_id": "HGNC:1388",
                "gene_name": "calcium voltage-gated channel subunit alpha1 A",
                "omim_gene": [
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                        "name": "GMS Rare Disease",
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                    },
                    {
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                    {
                        "name": "GMS Rare Disease Virtual",
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                ]
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                    "NR3C4",
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                    "HUMARA"
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                "hgnc_symbol": "AR",
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                "ensembl_genes": {
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                            "location": "X:66764465-66950461",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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                "Expert Review"
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                        "name": "GMS Rare Disease",
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                    {
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                    {
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            }
        },
        {
            "gene_data": {
                "alias": [
                    "TFIID"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11588",
                "gene_name": "TATA-box binding protein",
                "omim_gene": [
                    "600075"
                ],
                "alias_name": null,
                "gene_symbol": "TBP",
                "hgnc_symbol": "TBP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:170863390-170881958",
                            "ensembl_id": "ENSG00000112592"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:170554302-170572870",
                            "ensembl_id": "ENSG00000112592"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-05-26"
            },
            "entity_type": "str",
            "entity_name": "TBP_CAG",
            "confidence_level": "3",
            "penetrance": null,
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 17, 607136"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "repeated_sequence": "CAG",
            "chromosome": "6",
            "grch37_coordinates": [
                170870996,
                170871109
            ],
            "grch38_coordinates": [
                170561908,
                170562021
            ],
            "normal_repeats": 41,
            "pathogenic_repeats": 49,
            "tags": [
                "STR"
            ],
            "panel": {
                "id": 847,
                "hash_id": null,
                "name": "Childhood onset dystonia or chorea or related movement disorder",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.152",
                "version_created": "2021-09-14T18:01:57.509099Z",
                "relevant_disorders": [
                    "R57",
                    "Childhood onset dystonia",
                    "chorea or related movement disorder"
                ],
                "stats": {
                    "number_of_genes": 963,
                    "number_of_strs": 5,
                    "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."
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    }
                ]
            }
        }
    ]
}