GET /api/v1/panels/65/?version=2.0
HTTP 200 OK
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{
    "id": 65,
    "hash_id": "57ee82ef8f62035c9b2d0487",
    "name": "Primary lymphoedema",
    "disease_group": "Cardiovascular disorders",
    "disease_sub_group": "Lymphatic Disorders",
    "status": "public",
    "version": "2.0",
    "version_created": "2019-10-02T14:10:33.689992Z",
    "relevant_disorders": [
        "Lymphatic Disorders",
        "Meiges disease",
        "Meige disease",
        "Milroy disease",
        "Lymphoedema distichiasis",
        "Lipoedema disease",
        "R136"
    ],
    "stats": {
        "number_of_genes": 51,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
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        {
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                    "KIAA0366",
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                "hgnc_date_symbol_changed": "1999-04-15"
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                "Expert Review Green",
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                "UKGTN",
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                "Hennekam syndrome",
                "Hennekam lymphangiectasia-lymphedema syndrome 3"
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            "tags": []
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "Expert Review Green",
                "Expert Review"
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                "LEOPARD syndrome 3 613707",
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "Expert Review Green",
                "Expert Review"
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            "entity_type": "gene",
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            "evidence": [
                "London South GLH",
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                "London South GLH",
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                "London South GLH",
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "21396583"
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                "Expert Review Green",
                "Expert Review"
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            "tags": []
        },
        {
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                    "NEMO",
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        {
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                    "TRIP5"
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            "entity_type": "gene",
            "entity_name": "KIF11",
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "Expert Review Green",
                "Expert Review"
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        {
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                    "BTBD29"
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                "biotype": "protein_coding",
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                "alias_name": null,
                "gene_symbol": "LZTR1",
                "hgnc_symbol": "LZTR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "22:21333751-21353327",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1999-10-19"
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            "entity_type": "gene",
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                "Expert Review Green",
                "Expert Review"
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                "Noonan syndrome 10 616564"
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        {
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                    "MAPKK1"
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                "biotype": "protein_coding",
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                    "176872"
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                "alias_name": null,
                "gene_symbol": "MAP2K1",
                "hgnc_symbol": "MAP2K1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "15:66679155-66784650",
                            "ensembl_id": "ENSG00000169032"
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                    },
                    "GRch38": {
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                            "location": "15:66386817-66492312",
                            "ensembl_id": "ENSG00000169032"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-11-05"
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            "entity_type": "gene",
            "entity_name": "MAP2K1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
            "publications": [
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                "23321623"
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            "evidence": [
                "Expert Review Green",
                "Expert Review"
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                "Cardiofaciocutaneous syndrome 3 615279"
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        {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6842",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "MAP2K2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "19:4090319-4124126",
                            "ensembl_id": "ENSG00000126934"
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1993-11-05"
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            "entity_type": "gene",
            "entity_name": "MAP2K2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "21396583",
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                "Expert Review"
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        {
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                "hgnc_id": "HGNC:7765",
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                "omim_gene": [
                    "613113"
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                    "Watson disease"
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                "gene_symbol": "NF1",
                "hgnc_symbol": "NF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "17:29421945-29709134",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_name": "NF1",
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                "Expert Review Green",
                "Expert Review"
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        },
        {
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "NRAS",
                "hgnc_symbol": "NRAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "1:115247090-115259515",
                            "ensembl_id": "ENSG00000213281"
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                    "GRch38": {
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                            "location": "1:114704469-114716894",
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "NRAS",
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
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                "Expert Review Green",
                "Expert Review"
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        },
        {
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                "alias_name": null,
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                "Expert Review Green",
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        {
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                "hgnc_date_symbol_changed": "2011-08-31"
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            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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        {
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                "hgnc_symbol": "PMM2",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1997-05-22"
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            "entity_type": "gene",
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            "publications": [
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                "Expert Review Green",
                "Expert list"
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            "phenotypes": [
                "Congenital disorder of glycosylation, type Ia 212065"
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        },
        {
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                    "PP1beta"
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                "Expert Review Green",
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        },
        {
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                "biotype": "protein_coding",
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                "hgnc_symbol": "PTPN11",
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                "ensembl_genes": {
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                            "location": "12:112856155-112947717",
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                "hgnc_date_symbol_changed": "1993-03-03"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "Other - please provide details in the comments",
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        {
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "hgnc_symbol": "PTPN14",
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                            "location": "1:214522039-214725792",
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                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1995-02-22"
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            "entity_type": "gene",
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                "London South GLH",
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                "Choanal atresia and lymphedema, 613611"
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            "tags": [
                "watchlist"
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        },
        {
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                    "c-Raf",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9829",
                "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase",
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                    "164760"
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                "hgnc_symbol": "RAF1",
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                "ensembl_genes": {
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                            "location": "3:12625100-12705725",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
            "entity_name": "RAF1",
            "confidence_level": "3",
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            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
            "publications": [
                "17603483",
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                "LEOPARD syndrome 2 611554"
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        {
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                "Expert Review"
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                "Expert Review"
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        {
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                "hgnc_date_symbol_changed": "1998-04-08"
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                "Frontonasal dysplasia 1 136760"
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        {
            "gene_data": {
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                            "location": "7:30893010-30965131",
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            "mode_of_inheritance": "Unknown",
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        {
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                "26917597"
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                "hgnc_id": "HGNC:1736",
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                "26708094"
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                "Expert Review Red",
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                "Takenouchi-Kosaki syndrome 616737"
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        },
        {
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                "hgnc_symbol": "HGF",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:81328322-81399754",
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                            "location": "7:81699006-81770438",
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                },
                "hgnc_date_symbol_changed": "1991-06-07"
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            "entity_type": "gene",
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            "mode_of_pathogenicity": "",
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                "18564920"
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                "Expert list"
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        },
        {
            "gene_data": {
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                    "DFNB97"
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "164860"
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                    "hepatocyte growth factor receptor"
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                "hgnc_symbol": "MET",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:116312444-116438440",
                            "ensembl_id": "ENSG00000105976"
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                    },
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                            "location": "7:116672390-116798386",
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "MET",
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            "mode_of_pathogenicity": "",
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                "18564920"
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                "Expert list"
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        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7216",
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                    "154550"
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                "hgnc_symbol": "MPI",
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                            "location": "15:75182346-75191798",
                            "ensembl_id": "ENSG00000178802"
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                    },
                    "GRch38": {
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                            "location": "15:74890005-74902219",
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
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            "entity_type": "gene",
            "entity_name": "MPI",
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            "mode_of_pathogenicity": "",
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                "Expert list"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": []
        },
        {
            "gene_data": {
                "alias": [
                    "HsT2651",
                    "CTS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12405",
                "gene_name": "transthyretin",
                "omim_gene": [
                    "176300"
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                "alias_name": null,
                "gene_symbol": "TTR",
                "hgnc_symbol": "TTR",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "18:29171689-29178974",
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
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                "31131842",
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                "31111153",
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                "Expert Review Red",
                "Emory Genetics Laboratory",
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                "Radboud University Medical Center, Nijmegen",
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                "Amyloidosis, hereditary, transthyretin-related 105210",
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                "Dystransthyretinemic hyperthyroxinemia 145680"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "treatable"
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        },
        {
            "gene_data": {
                "alias": [],
                "biotype": null,
                "hgnc_id": "HGNC:12309",
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                    "604500"
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                "alias_name": null,
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                "ensembl_genes": {
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                            "location": "17:34842473-34855154",
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                    },
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                            "location": "17:36486629-36499310",
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                "hgnc_date_symbol_changed": "2005-09-08"
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                "28335020"
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                "Expert Review Red",
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                "PEHO syndrome, 260565"
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            "tags": [
                "founder-effect"
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    ],
    "strs": [],
    "regions": []
}