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                "Victorian Clinical Genetics Services",
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                "Illumina TruGenome Clinical Sequencing Services",
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                "London South East RGC GSTT",
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                "Symphalangism, proximal, 1B 615298",
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                "Polydactyly"
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                "version_created": "2021-03-01T11:35:20.182160Z",
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "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"
                    },
                    {
                        "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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            "entity_type": "gene",
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                "HYPT2",
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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)"
                    },
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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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                    "FLJ22257"
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                    "Anaemias and red cell disorders",
                    "Cytopaenias and congenital anaemias",
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                    {
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                    "number_of_regions": 6
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                "types": [
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                        "name": "Rare Disease 100K",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                    {
                        "name": "Component Of Super Panel",
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                    {
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        {
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                    "CD265",
                    "FEO"
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                    "603499"
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                "alias_name": null,
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                "hgnc_symbol": "TNFRSF11A",
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                            "location": "18:59992520-60058516",
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                "hgnc_date_symbol_changed": "1998-12-04"
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            "entity_type": "gene",
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                    "R104"
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                "stats": {
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                    {
                        "name": "GMS Rare Disease Virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
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                    "number_of_regions": 3
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    {
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                "alias_name": [
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                    "FYVE-CENT"
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                "hgnc_symbol": "ZFYVE26",
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                            "location": "14:68194091-68283307",
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                "hgnc_date_symbol_changed": "2003-04-01"
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                "Hanein et al. (2008)"
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                "Expert Review Red",
                "Wessex and West Midlands GLH",
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                "London North GLH"
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                "version_created": "2021-03-04T12:49:23.394049Z",
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                    "number_of_strs": 16,
                    "number_of_regions": 4
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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)"
                    },
                    {
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                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                    {
                        "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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        {
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                "ensembl_genes": {
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                            "location": "11:2163929-2171877",
                            "ensembl_id": "ENSG00000180176"
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "TH",
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            "penetrance": "Complete",
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                "Expert Review Amber",
                "Literature"
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "version": "1.447",
                "version_created": "2021-02-11T16:34:25.452960Z",
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                    "Undiagnosed Metabolic Panel"
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                    "number_of_genes": 751,
                    "number_of_strs": 1,
                    "number_of_regions": 1
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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            "transcript": null
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        {
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                "hgnc_id": "HGNC:321",
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                "hgnc_symbol": "AGL",
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                            "location": "1:100315640-100389579",
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                "hgnc_date_symbol_changed": "1992-07-29"
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                "Glycogen storage disease IIIb, 232400",
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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                "version_created": "2021-02-11T16:34:25.452960Z",
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                "types": [
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                    "Moderate",
                    "severe or profound intellectual disability",
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                    "Intellectual disability - microarray",
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                    "R29"
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                    {
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                "omim_gene": [
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                "alias_name": [
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                            "location": "6:121756838-121770873",
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                "hgnc_date_symbol_changed": "1990-08-03"
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            "entity_name": "GJA1",
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            "penetrance": "Complete",
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                "BRIDGE study SPEED NEURO Tier1 Gene"
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        {
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                    "604878"
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                "gene_symbol": "SLC12A6",
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                "ensembl_genes": {
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            "entity_type": "gene",
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        {
            "gene_data": {
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                    "dactylin"
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        {
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        {
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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."
                    },
                    {
                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                "hgnc_date_symbol_changed": "1996-10-11"
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            "penetrance": "Complete",
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                "24375934",
                "12076089",
                "10629044"
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                "Expert Review Green"
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            "phenotypes": [
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                    "Cone Dysfunction Syndrome",
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                    "Inherited macular dystrophy",
                    "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
                    "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
                    "Rod Dysfunction Syndrome",
                    "Rod-cone dystrophy",
                    "Familial exudative vitreoretinopathy",
                    "Familial exudative retinopathy",
                    "R32",
                    "R33",
                    "R34",
                    "R35"
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                    "number_of_regions": 0
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                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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                ]
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        },
        {
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                    "CORD13"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13436",
                "gene_name": "RPGR interacting protein 1",
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                "alias_name": null,
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                "hgnc_symbol": "RPGRIP1",
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                "Expert Review Red"
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                        "name": "GMS Rare Disease",
                        "slug": "gms-rare-disease",
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                    },
                    {
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                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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                    }
                ]
            },
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        },
        {
            "gene_data": {
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                    "BBS2L1"
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                "biotype": "protein_coding",
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                "hgnc_symbol": "BBS7",
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                    "Bardet-Biedl Syndrome"
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                    "number_of_strs": 0,
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                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
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                ]
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26558",
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                "omim_gene": [
                    "610693"
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                "hgnc_symbol": "HYLS1",
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                },
                "hgnc_date_symbol_changed": "2005-05-04"
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            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
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                    "number_of_regions": 2
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                "types": [
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                        "name": "Rare Disease 100K",
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                "alias_name": null,
                "gene_symbol": "USH1G",
                "hgnc_symbol": "USH1G",
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            "entity_type": "gene",
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                    "Bardet-Biedl Syndrome"
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                    "number_of_regions": 2
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
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                    {
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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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                "30847515"
            ],
            "evidence": [
                "Next Generation Children Project",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Fructose intolerance, hereditary, 229600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 921,
                "hash_id": null,
                "name": "Severe Paediatric Disorders",
                "disease_group": "",
                "disease_sub_group": "",
                "status": "public",
                "version": "1.65",
                "version_created": "2021-03-02T10:51:30.356603Z",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 2691,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [
                    {
                        "name": "Research",
                        "slug": "research",
                        "description": "This is a gene panel used for research."
                    }
                ]
            },
            "transcript": null
        },
        {
            "gene_data": null,
            "entity_type": "region",
            "entity_name": "ISCA-37400-Loss",
            "verbose_name": "16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "haploinsufficiency_score": "3",
            "triplosensitivity_score": "",
            "required_overlap_percentage": 80,
            "type_of_variants": "cnv_loss",
            "publications": [
                "21841781",
                "18184952",
                "20301775"
            ],
            "evidence": [
                "Expert Review Green",
                "ClinGen"
            ],
            "phenotypes": [
                "seizures",
                "intellectual disability",
                "Chiari malformations",
                "cerebellar ectopia",
                "611913",
                "mental retardation",
                "Macrocephaly",
                "developmental delay",
                "autism spectrum disorder (ASD)",
                "vertebral anomalies"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "chromosome": "16",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                29638675,
                30188534
            ],
            "tags": [],
            "panel": {
                "id": 285,
                "hash_id": "558aa423bb5a16630e15b63c",
                "name": "Intellectual disability",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Neurodevelopmental disorders",
                "status": "public",
                "version": "3.977",
                "version_created": "2021-03-05T11:06:11.021698Z",
                "relevant_disorders": [
                    "Coarse facial features including Coffin-Siris-like disorders",
                    "ID",
                    "Moderate",
                    "severe or profound intellectual disability",
                    "Schizophrenia plus additional features",
                    "Intellectual disability - microarray",
                    "fragile X and sequencing",
                    "R29"
                ],
                "stats": {
                    "number_of_genes": 2464,
                    "number_of_strs": 12,
                    "number_of_regions": 57
                },
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    },
                    {
                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
                        "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
                    },
                    {
                        "name": "Component Of Super Panel",
                        "slug": "component-of-super-panel",
                        "description": "This panel is a component of a Super Panel"
                    },
                    {
                        "name": "GMS signed-off",
                        "slug": "gms-signed-off",
                        "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
                    }
                ]
            }
        }
    ]
}