GET /api/v1/panels/736/?version=1.4
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{
    "id": 736,
    "name": "Neurological segmental overgrowth",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
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                    "RAC",
                    "PKB",
                    "PRKBA",
                    "AKT"
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                "hgnc_id": "HGNC:391",
                "gene_name": "AKT serine/threonine kinase 1",
                "omim_gene": [
                    "164730"
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                "alias_name": null,
                "gene_symbol": "AKT1",
                "hgnc_symbol": "AKT1",
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            },
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                "Proteus syndrome, 176920",
                "Proteus syndrome, somatic,176920",
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                "Segmental Overgrowth Syndrome",
                "Proteus syndrome"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
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                    "PKBG",
                    "RAC-gamma",
                    "PRKBG"
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                    "611223"
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                "alias_name": [
                    "protein kinase B, gamma"
                ],
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                "hgnc_symbol": "AKT3",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1999-11-16"
            },
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                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937",
                "Macrocephaly and Overgrowth Syndromes",
                "MPPH2",
                "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2"
            ],
            "transcript": null,
            "entity_name": "AKT3",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1583",
                "gene_name": "cyclin D2",
                "omim_gene": [
                    "123833"
                ],
                "alias_name": [
                    "G1/S-specific cyclin D2"
                ],
                "gene_symbol": "CCND2",
                "hgnc_symbol": "CCND2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:4382938-4414516",
                            "ensembl_id": "ENSG00000118971"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000118971"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-12-10"
            },
            "penetrance": null,
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                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938",
                "MPPH3",
                "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3"
            ],
            "transcript": null,
            "entity_name": "CCND2",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
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            "gene_data": {
                "alias": [
                    "PI3K"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
                    "171834"
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                "alias_name": null,
                "gene_symbol": "PIK3CA",
                "hgnc_symbol": "PIK3CA",
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                    "GRch37": {
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                            "ensembl_id": "ENSG00000121879"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-07-15"
            },
            "penetrance": null,
            "phenotypes": [
                "Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501",
                "CLOVE syndrome",
                "CLOVES",
                "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918",
                "Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome",
                "CLOVES syndrome",
                "Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic",
                "Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",
                "Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome",
                "macrocephaly-capillary malformation (MCM) syndrome",
                "Megalencephaly-Capillary malformation syndrome",
                "Macrocephaly and Overgrowth Syndromes",
                "MCAP"
            ],
            "transcript": null,
            "entity_name": "PIK3CA",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "P85B",
                    "p85"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8980",
                "gene_name": "phosphoinositide-3-kinase regulatory subunit 2",
                "omim_gene": [
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                "alias_name": [
                    "phosphoinositide-3-kinase regulatory subunit beta"
                ],
                "gene_symbol": "PIK3R2",
                "hgnc_symbol": "PIK3R2",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:18263928-18281350",
                            "ensembl_id": "ENSG00000105647"
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                    },
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                            "ensembl_id": "ENSG00000105647"
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                    }
                },
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            "penetrance": null,
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                "MPPH1",
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387",
                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387",
                "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1",
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            "transcript": null,
            "entity_name": "PIK3R2",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "PTEN",
                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
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                },
                "hgnc_date_symbol_changed": "1997-04-21"
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            "penetrance": null,
            "phenotypes": [
                "hemihypertrophy",
                "Bannayan Riley Ruvalcalba Syndrome",
                "Bannayan-Riley-Ruvalcaba Syndrome",
                "Proteus-like syndrome",
                "macrocephaly",
                "Bannayan-Riley-Ruvalcaba syndrome, 153480",
                "BRRS",
                "Bannayan-Riley-Ruvalcaba syndrome,153480",
                "megalencephaly",
                "PTEN Hamartoma Tumor Syndrome",
                "Macrocephaly and Overgrowth Syndromes",
                "PHTS",
                "Cowden syndrome"
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            "transcript": null,
            "entity_name": "PTEN",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:392",
                "gene_name": "AKT serine/threonine kinase 2",
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                "alias_name": null,
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                "hgnc_symbol": "AKT2",
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                "HIHGHH",
                "Hypoinsulinemic hypoglycemia with hemihypertrophy",
                "Hypoinsulinemic hypoglycemia with hemihypertrophy,240900",
                "Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900"
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        {
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            "evidence": [
                "Expert Review Red"
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                "biotype": "protein_coding",
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                "alias_name": null,
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                            "ensembl_id": "ENSG00000174775"
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                            "ensembl_id": "ENSG00000174775"
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            "penetrance": null,
            "phenotypes": [
                "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200",
                "Hemimegalencephaly"
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            "transcript": null,
            "entity_name": "HRAS",
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            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
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            "gene_data": {
                "alias": [
                    "KRAS1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6407",
                "gene_name": "KRAS proto-oncogene, GTPase",
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                "alias_name": null,
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                            "ensembl_id": "ENSG00000133703"
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            "penetrance": null,
            "phenotypes": [
                "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200",
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            "transcript": null,
            "entity_name": "KRAS",
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        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
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            "gene_data": {
                "alias": [
                    "RAFT1",
                    "RAPT1",
                    "FLJ44809"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3942",
                "gene_name": "mechanistic target of rapamycin kinase",
                "omim_gene": [
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                    "FK506 binding protein 12-rapamycin associated protein 2",
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                    "FKBP12-rapamycin complex-associated protein 1",
                    "FKBP-rapamycin associated protein",
                    "rapamycin associated protein FRAP2",
                    "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)",
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                    "mammalian target of rapamycin"
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                "hgnc_symbol": "MTOR",
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                "Segmental Overgrowth Syndrome",
                "HME",
                "Hemimegalencephaly"
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            "evidence": [
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            "penetrance": null,
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                "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200",
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            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "Expert Review Red"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21066",
                "gene_name": "TBC1 domain family member 7",
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                "alias_name": [
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                            "ensembl_id": "ENSG00000145979"
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            "penetrance": null,
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                "MGCPH",
                "Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000"
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            "mode_of_pathogenicity": ""
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    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 12,
        "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": "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."
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    "status": "public",
    "hash_id": null,
    "regions": [],
    "version": "1.4",
    "disease_group": "",
    "version_created": "2020-03-04T11:44:50.433045Z",
    "disease_sub_group": "",
    "relevant_disorders": [],
    "signed_off": "2020-03-04"
}