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{
    "id": 126,
    "name": "Hearing loss",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP434P106",
                    "dJ965G21.2",
                    "BEM46L2",
                    "ABHD12A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15868",
                "gene_name": "abhydrolase domain containing 12",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "ABHD12",
                "hgnc_symbol": "ABHD12",
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                "ensembl_genes": {
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                    }
                },
                "hgnc_date_symbol_changed": "2006-03-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674",
                "Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)",
                "Hearing loss",
                "Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)",
                "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674",
                "#612674",
                "Hearing loss, sensorineural",
                "Subcapsular cataracts",
                "Retinitis pigmentosa",
                "Optic atrophy",
                "Nystagmus",
                "Pes cavus Achilles tendon contracture",
                "Distal muscle atrophy due to neurologic disease",
                "Ataxia Spasticity Extensor plantar responses",
                "Hyperreflexia Intention",
                "tremor",
                "Dysarthria Dysmetria Cerebellar atrophy",
                "Sensorimotor peripheral neuropathy",
                "Distal sensory loss",
                "Demyelinating neuropathy",
                "Hyporeflexia",
                "Decreased nerve conduction velocities",
                "Normal serum phytanic and pristanic acid"
            ],
            "entity_name": "ABHD12",
            "entity_type": "gene",
            "publications": [
                "PMID: 20797687",
                "24697911"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:144",
                "gene_name": "actin gamma 1",
                "omim_gene": [
                    "102560"
                ],
                "alias_name": null,
                "gene_symbol": "ACTG1",
                "hgnc_symbol": "ACTG1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    }
                },
                "hgnc_date_symbol_changed": "1988-06-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Deafness, autosomal dominant 20/26, 604717",
                "Baraitser-Winter syndrome 2, 614583",
                "#604717",
                "Hearing loss, sensorineural, bilateral, progressive",
                "Hearing loss begins with loss of high frequencies",
                "Audiogram shows sloping configuration",
                "Deafness, profound, by 6th decade",
                "Trigonocephaly/metopic ridge",
                "Prominent/full/wide cheeks",
                "Pointed chin",
                "Retrognathia (in some patients)",
                "Abnormally shaped ears",
                "Deafness (in some patients)",
                "Microphthalmia (in some patients)",
                "Arched eyebrows",
                "Long palpebral fissures",
                "Eye coloboma (in some patients)",
                "Hypertelorism/telecanthus",
                "Ptosis",
                "Short, upturned nose",
                "Large, squared nose tip",
                "Prominent nasal root on profile",
                "Thick/prominent/everted lower lipCleft lip/palate (in some patients)",
                "Long philtrum",
                "Thin upper lip",
                "Large mouth",
                "Short neck (in some patients)",
                "Pterygium colli (in some patients)",
                "Heart defect (in some patients)",
                "Kyphosis/scoliosis (in some patients)",
                "Pectus (in some patients)",
                "Enlarged ventricles (in some patients)",
                "Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)",
                "Epilepsy"
            ],
            "entity_name": "ACTG1",
            "entity_type": "gene",
            "publications": [
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                "11474115",
                "12388543",
                "12519370",
                "13680526",
                "14684684",
                "16773128",
                "16950128",
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                "2837653",
                "3351890",
                "3472224",
                "3737401",
                "5654493",
                "6865942",
                "8941379"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp761P0710",
                    "KIAA0686",
                    "FEB4",
                    "VLGR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17416",
                "gene_name": "adhesion G protein-coupled receptor V1",
                "omim_gene": [
                    "602851"
                ],
                "alias_name": null,
                "gene_symbol": "ADGRV1",
                "hgnc_symbol": "ADGRV1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000164199"
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                    }
                },
                "hgnc_date_symbol_changed": "2015-03-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Febrile seizures, familial, 4, 604352",
                "Syndromic and Non Syndromic Hearing Loss",
                "Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472",
                "Usher syndrome, type 2C, 605472"
            ],
            "entity_name": "ADGRV1",
            "entity_type": "gene",
            "publications": [
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                "10976914",
                "11545713",
                "11606593",
                "12095917",
                "12402266",
                "14740321",
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                "19357117",
                "20440071",
                "22147658",
                "9598305",
                "9734811"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0328"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:428",
                "gene_name": "ALMS1, centrosome and basal body associated protein",
                "omim_gene": [
                    "606844"
                ],
                "alias_name": null,
                "gene_symbol": "ALMS1",
                "hgnc_symbol": "ALMS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:73612886-73837920",
                            "ensembl_id": "ENSG00000116127"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000116127"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-10-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#203800: Alstrom syndrome"
            ],
            "entity_name": "ALMS1",
            "entity_type": "gene",
            "publications": [
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                "11941369",
                "11941370",
                "16000322",
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                "17594715",
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                "9921899"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "VATB",
                    "RTA1B",
                    "Vma2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:853",
                "gene_name": "ATPase H+ transporting V1 subunit B1",
                "omim_gene": [
                    "192132"
                ],
                "alias_name": [
                    "Renal tubular acidosis with deafness"
                ],
                "gene_symbol": "ATP6V1B1",
                "hgnc_symbol": "ATP6V1B1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                },
                "hgnc_date_symbol_changed": "2002-05-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Distal Renal Tubular Acidosis with Progressive Nerve Deafness",
                "Renal tubular acidosis with deafness, 267300"
            ],
            "entity_name": "ATP6V1B1",
            "entity_type": "gene",
            "publications": [
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                "1373501",
                "18798332",
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                "2869030",
                "7945239",
                "9916796"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "Hs.6719",
                    "BCS",
                    "h-BCS",
                    "BJS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1020",
                "gene_name": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",
                "omim_gene": [
                    "603647"
                ],
                "alias_name": [
                    "GRACILE syndrome",
                    "Bjornstad syndrome"
                ],
                "gene_symbol": "BCS1L",
                "hgnc_symbol": "BCS1L",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:219523487-219528166",
                            "ensembl_id": "ENSG00000074582"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000074582"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-07-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#124000:Mitochondrial complex III deficiency, nuclear type 1",
                "#256000:Leigh syndrome",
                "#262000:Bjornstad syndrome",
                "#603358:GRACILE syndrome"
            ],
            "entity_name": "BCS1L",
            "entity_type": "gene",
            "publications": [
                "PMID:10508156",
                "11528392",
                "12215968",
                "12910490",
                "17314340",
                "17403714",
                "19162478",
                "19508421",
                "24172246",
                "7577396",
                "9545407",
                "9792866",
                "9878253"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "BART"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16512",
                "gene_name": "barttin CLCNK type accessory beta subunit",
                "omim_gene": [
                    "606412"
                ],
                "alias_name": null,
                "gene_symbol": "BSND",
                "hgnc_symbol": "BSND",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000162399"
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                    },
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                },
                "hgnc_date_symbol_changed": "2004-01-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Bartter syndrome, type 4a, 602522",
                "#602522:Sensorineural deafness with mild renal dysfunction",
                "Barttersyndrome,type4a, 602522"
            ],
            "entity_name": "BSND",
            "entity_type": "gene",
            "publications": [
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                "19646679",
                "9463315"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1385",
                "gene_name": "calcium binding protein 2",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CABP2",
                "hgnc_symbol": "CABP2",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2000-07-28"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal recessive 93, 614899"
            ],
            "entity_name": "CABP2",
            "entity_type": "gene",
            "publications": [
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                "11108966",
                "22981119"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18111",
                "gene_name": "coiled-coil domain containing 50",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CCDC50",
                "hgnc_symbol": "CCDC50",
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            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal dominant 44, 607453",
                "hearing loss",
                "#607453:?Deafness, autosomal dominant 44"
            ],
            "entity_name": "CCDC50",
            "entity_type": "gene",
            "publications": [
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                "14527723",
                "16803894",
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                "17503326"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
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            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13733",
                "gene_name": "cadherin related 23",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "CDH23",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2000-10-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Usher syndrome, type 1D, 601067",
                "Deafness, autosomal recessive 12, 601386",
                "Usher syndrome, type 1D/F digenic, 601067",
                "Nonsyndromic Hearing Loss, Recessive"
            ],
            "entity_name": "CDH23",
            "entity_type": "gene",
            "publications": [
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                "11138008",
                "11138009",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:31948",
                "gene_name": "carcinoembryonic antigen related cell adhesion molecule 16",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "CEACAM16",
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                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2005-07-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#614614:?Deafness, autosomal dominant 4B",
                "Sensorineural hearing loss, progressive bilateral postlingual"
            ],
            "entity_name": "CEACAM16",
            "entity_type": "gene",
            "publications": [
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                "7655461",
                "21368133",
                "25589040",
                "26648831"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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                "Other"
            ],
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
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                "gene_name": "centrosomal protein 78",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CEP78",
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                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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        {
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        {
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            ],
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                "12034774",
                "15864301",
                "17182868",
                "24781755",
                "PMID: 1350680 and 9360932 - original studies mapping the cause of autosomal dominant nonsyndromic deafness in the Cost Rican M Kindred to a region on chromosome 5q31 named the DFNA1 gene. All 78 affected members were heterozygous for a mutation found within the gene that caused abberant splicing",
                "PMID: 24781755 - a family study identify a homozygous nonsense alteration as the cause of microcephaly (MCP), severe visual impairment, intellectual disability, and short stature",
                "PMID: 26463574 - describes a case of an affected boy from United Arab Emirates, and a seperate family with 3 affected siblings of Omani ancestry, and identify likely causative homozygous variants in this gene in the individuals affected with microcephaly, blindness and early onset seizures."
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Expert Review Green",
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                "Illumina TruGenome Clinical Sequencing Services",
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            ],
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                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "19:10244021-10341962",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
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                "Emory Genetics Laboratory"
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                "alias_name": null,
                "gene_symbol": "DSPP",
                "hgnc_symbol": "DSPP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "Dentin dysplasia, type II,1254203"
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            "entity_name": "DSPP",
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                "PMID:10706475",
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                "11175779",
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                "8995371",
                "9533027"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "131242"
                ],
                "alias_name": null,
                "gene_symbol": "EDN3",
                "hgnc_symbol": "EDN3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:57875482-57901047",
                            "ensembl_id": "ENSG00000124205"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000124205"
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                "hgnc_date_symbol_changed": "1989-09-06"
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                "Waardenburg syndrome, type 4B, 613265",
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                "{Hirschsprung disease, susceptibility to}, 613712"
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            "entity_name": "EDN3",
            "entity_type": "gene",
            "publications": [
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                "2649896",
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                "8001160",
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                "8630503",
                "8696331",
                "9359047"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3180",
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                "omim_gene": [
                    "131244"
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                "alias_name": null,
                "gene_symbol": "EDNRB",
                "hgnc_symbol": "EDNRB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:78469616-78493903",
                            "ensembl_id": "ENSG00000136160"
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                    },
                    "GRch38": {
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                            "location": "13:77895481-77919768",
                            "ensembl_id": "ENSG00000136160"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#277580:Waardenburg syndrome, type 4A",
                "#600155:{Hirschsprung disease, susceptibility to, 2}",
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            ],
            "entity_name": "EDNRB",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
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                    "600206"
                ],
                "alias_name": null,
                "gene_symbol": "EPS8",
                "hgnc_symbol": "EPS8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "12:15773092-16035263",
                            "ensembl_id": "ENSG00000151491"
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                    },
                    "GRch38": {
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                            "location": "12:15620158-15882329",
                            "ensembl_id": "ENSG00000151491"
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                "hgnc_date_symbol_changed": "1994-12-19"
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            "penetrance": "Complete",
            "phenotypes": [
                "?Deafness, autosomal recessive 102, 615974",
                "Deafness, prelingual, profound (affects all frequencies)"
            ],
            "entity_name": "EPS8",
            "entity_type": "gene",
            "publications": [
                "PMID: 10499589",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
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                    "606351"
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                "alias_name": null,
                "gene_symbol": "ESPN",
                "hgnc_symbol": "ESPN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2001-12-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal recessive 36, 609006Deafness, neurosensory, without vestibular involvement, autosomal dominant",
                "Deafness,autosomalrecessive36,609006Deafness,neurosensory,withoutvestibularinvolvement,autosomaldominant"
            ],
            "entity_name": "ESPN",
            "entity_type": "gene",
            "publications": [
                "PMID: 10588661",
                "10975527",
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "gene_data": {
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                    "ERRbeta",
                    "NR3B2",
                    "ERRb"
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "ESRRB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "14:76776957-76968178",
                            "ensembl_id": "ENSG00000119715"
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                    },
                    "GRch38": {
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                            "location": "14:76310614-76501841",
                            "ensembl_id": "ENSG00000119715"
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                },
                "hgnc_date_symbol_changed": "1997-04-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 35, 608565",
                "hearing loss"
            ],
            "entity_name": "ESRRB",
            "entity_type": "gene",
            "publications": [
                "PMID:12529709",
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                "22902501",
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                "9285590",
                "9344655"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3519",
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                "alias_name": null,
                "gene_symbol": "EYA1",
                "hgnc_symbol": "EYA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "8:72109668-72274467",
                            "ensembl_id": "ENSG00000104313"
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                    },
                    "GRch38": {
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                            "location": "8:71197433-71362232",
                            "ensembl_id": "ENSG00000104313"
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                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
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                "Anterior segment anomalies with or without cataract, 113650",
                "Branchiootic syndrome 1, 602588",
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            "entity_name": "EYA1",
            "entity_type": "gene",
            "publications": [
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                "10471511",
                "10655545",
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                "15146463",
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                "19234442",
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                "9361030",
                "9603436"
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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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                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3522",
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                ],
                "alias_name": null,
                "gene_symbol": "EYA4",
                "hgnc_symbol": "EYA4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "6:133561736-133853258",
                            "ensembl_id": "ENSG00000112319"
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                    "GRch38": {
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                "hgnc_date_symbol_changed": "1998-07-15"
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            "penetrance": "Complete",
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                "Nonsyndromic Hearing Loss, Dominant",
                "Deafness, autosomal dominant 10, 601316",
                "Cardiomyopathy, dilated, 1J, 605362"
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            "entity_name": "EYA4",
            "entity_type": "gene",
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                "11159937",
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                "17568404",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
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                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen",
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            ],
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                    "HBGF-3"
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                "biotype": "protein_coding",
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                "gene_name": "fibroblast growth factor 3",
                "omim_gene": [
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                ],
                "alias_name": [
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                    "oncogene INT2",
                    "V-INT2 murine mammary tumor virus integration site oncogene homolog",
                    "murine mammary tumor virus integration site 2, mouse"
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                "hgnc_symbol": "FGF3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "11:69624992-69633792",
                            "ensembl_id": "ENSG00000186895"
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                    },
                    "GRch38": {
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                            "location": "11:69810224-69819024",
                            "ensembl_id": "ENSG00000186895"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
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                "#610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia"
            ],
            "entity_name": "FGF3",
            "entity_type": "gene",
            "publications": [
                "PMID:15809038",
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                "1922362",
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                "3023852",
                "3574458"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
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                "Illumina TruGenome Clinical Sequencing Services"
            ],
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4172",
                "gene_name": "GATA binding protein 3",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "GATA3",
                "hgnc_symbol": "GATA3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "10:8095567-8117161",
                            "ensembl_id": "ENSG00000107485"
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                    },
                    "GRch38": {
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                            "location": "10:8053604-8075198",
                            "ensembl_id": "ENSG00000107485"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-11-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#146255:Hypoparathyroidism, sensorineural deafness, and renal dysplasia"
            ],
            "entity_name": "GATA3",
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                "11389161",
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                "12923059",
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                "9261181",
                "9780145",
                "9949310"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
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                    "DFNB95"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18183",
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                    "608792"
                ],
                "alias_name": null,
                "gene_symbol": "GIPC3",
                "hgnc_symbol": "GIPC3",
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                "ensembl_genes": {
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                    },
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                },
                "hgnc_date_symbol_changed": "2005-06-28"
            },
            "penetrance": "Complete",
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                "#601869: Deafness, autosomal recessive 15"
            ],
            "entity_name": "GIPC3",
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                "17690910",
                "21326233",
                "21660509",
                "9286457"
            ],
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            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
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                    "NSRD1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4284",
                "gene_name": "gap junction protein beta 2",
                "omim_gene": [
                    "121011"
                ],
                "alias_name": [
                    "connexin 26"
                ],
                "gene_symbol": "GJB2",
                "hgnc_symbol": "GJB2",
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                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:20761609-20767037",
                            "ensembl_id": "ENSG00000165474"
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                    },
                    "GRch38": {
                        "90": {
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                    }
                },
                "hgnc_date_symbol_changed": "1990-02-12"
            },
            "penetrance": "Complete",
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                "hearing loss",
                "Deafness, autosomal recessive 1A, 220290",
                "Deafness, autosomal dominant 3A, 601544",
                "Vohwinkel syndrome, 124500",
                "Keratoderma, palmoplantar, with deafness, 148350",
                "Keratitis-ichthyosis-deafness syndrome, 148210",
                "Hystrix-like ichthyosis with deafness, 602540",
                "Bart-Pumphrey syndrome, 149200",
                "Nonsyndromic Hearing Loss, Dominant",
                "Hearing Loss or deafness"
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            "entity_name": "GJB2",
            "entity_type": "gene",
            "publications": [
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                "10369869",
                "10376574",
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                "12484567",
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                "12920081",
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                "14735592",
                "14985372",
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                "15235031",
                "15241677",
                "15253766",
                "15365987",
                "15482471",
                "15592461",
                "15633193",
                "15666300",
                "15700112",
                "15952212",
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                "16059934",
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                "16773579",
                "16840571",
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                "8978770",
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                "9529365",
                "9620796",
                "9716127",
                "9819448",
                "9856479",
                "31160754"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "CX31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4285",
                "gene_name": "gap junction protein beta 3",
                "omim_gene": [
                    "603324"
                ],
                "alias_name": [
                    "connexin 31"
                ],
                "gene_symbol": "GJB3",
                "hgnc_symbol": "GJB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:35246790-35251970",
                            "ensembl_id": "ENSG00000188910"
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                    },
                    "GRch38": {
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                },
                "hgnc_date_symbol_changed": "1991-07-12"
            },
            "penetrance": "Complete",
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                "Nonsyndromic Hearing Loss, Dominant",
                "Erythrokeratodermia variabilis et progressiva, 133200",
                "Deafness, autosomal dominant 2B, 612644",
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                "Deafness, autosomal dominant, with peripheral neuropathy",
                "Deafness, digenic, GJB2/GJB3, 220290"
            ],
            "entity_name": "GJB3",
            "entity_type": "gene",
            "publications": [
                "PMID:10587579",
                "10594760",
                "10757647",
                "10798362",
                "11175305",
                "11309368",
                "12019212",
                "12165562",
                "12452892",
                "14583444",
                "16549784",
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                "19050930",
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                "9347797",
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                "9843210"
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            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "LGN",
                    "Pins"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29501",
                "gene_name": "G protein signaling modulator 2",
                "omim_gene": [
                    "609245"
                ],
                "alias_name": null,
                "gene_symbol": "GPSM2",
                "hgnc_symbol": "GPSM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:109417972-109477167",
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                    },
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                },
                "hgnc_date_symbol_changed": "2004-02-03"
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            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Chudley-McCullough syndrome, 604213",
                "also causes arachnoid cysts and MRI changes -  clinical phenotpye maybe mild neurological symptoms"
            ],
            "entity_name": "GPSM2",
            "entity_type": "gene",
            "publications": [
                "PMID:11832491",
                "15623799",
                "16357871",
                "20602914",
                "21331036",
                "21348867",
                "22578326",
                "8973305"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13782",
                    "BOM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2799",
                "gene_name": "grainyhead like transcription factor 2",
                "omim_gene": [
                    "608576"
                ],
                "alias_name": null,
                "gene_symbol": "GRHL2",
                "hgnc_symbol": "GRHL2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:102504660-102681954",
                            "ensembl_id": "ENSG00000083307"
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                    },
                    "GRch38": {
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                            "location": "8:101492432-101669726",
                            "ensembl_id": "ENSG00000083307"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-07-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Deafness, autosomal dominant 28, 608641",
                "#616029: Ectodermal dysplasia/short stature syndrome"
            ],
            "entity_name": "GRHL2",
            "entity_type": "gene",
            "publications": [
                "PMID:12393799",
                "20938050",
                "21610158",
                "23813623",
                "25152456"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "PPP1R88"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:31673",
                "gene_name": "glutaredoxin and cysteine rich domain containing 1",
                "omim_gene": [
                    "613283"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 88"
                ],
                "gene_symbol": "GRXCR1",
                "hgnc_symbol": "GRXCR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "4:42895284-43032675",
                            "ensembl_id": "ENSG00000215203"
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                    },
                    "GRch38": {
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                            "location": "4:42893267-43030658",
                            "ensembl_id": "ENSG00000215203"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-07-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 25, 613285",
                "hearing loss"
            ],
            "entity_name": "GRXCR1",
            "entity_type": "gene",
            "publications": [
                "PMID:15347914",
                "20137774",
                "20137778"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "treatable"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4796",
                "gene_name": "3-hydroxyanthranilate 3,4-dioxygenase",
                "omim_gene": [
                    "604521"
                ],
                "alias_name": null,
                "gene_symbol": "HAAO",
                "hgnc_symbol": "HAAO",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:42994229-43019733",
                            "ensembl_id": "ENSG00000162882"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:42767089-42792593",
                            "ensembl_id": "ENSG00000162882"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-12-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Multiple congenital malformations",
                "VACTERL-like phenotype"
            ],
            "entity_name": "HAAO",
            "entity_type": "gene",
            "publications": [
                "27604308",
                "17334708",
                "28792876"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5103",
                "gene_name": "homeobox A2",
                "omim_gene": [
                    "604685"
                ],
                "alias_name": null,
                "gene_symbol": "HOXA2",
                "hgnc_symbol": "HOXA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:27139721-27142430",
                            "ensembl_id": "ENSG00000105996"
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                    },
                    "GRch38": {
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                            "location": "7:27100354-27102811",
                            "ensembl_id": "ENSG00000105996"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-02-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microtia, Hearing Impairment, and Cleft Palate",
                "Microtia, Hearing Impairment, and Cleft Palate",
                "#612290:?Microtia, hearing impairment, and cleft palate (AR)"
            ],
            "entity_name": "HOXA2",
            "entity_type": "gene",
            "publications": [
                "PMID:10230789",
                "1358459",
                "16902088",
                "18394579",
                "23775976",
                "9367425"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "MFE-2",
                    "DBP",
                    "SDR8C1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5213",
                "gene_name": "hydroxysteroid 17-beta dehydrogenase 4",
                "omim_gene": [
                    "601860"
                ],
                "alias_name": [
                    "17beta-estradiol dehydrogenase type IV",
                    "peroxisomal multifunctional protein 2",
                    "17-beta-HSD IV",
                    "17-beta-hydroxysteroid dehydrogenase 4",
                    "D-bifunctional protein, peroxisomal",
                    "D-3-hydroxyacyl-CoA dehydratase",
                    "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "beta-keto-reductase",
                    "beta-hydroxyacyl dehydrogenase",
                    "short chain dehydrogenase/reductase family 8C, member 1"
                ],
                "gene_symbol": "HSD17B4",
                "hgnc_symbol": "HSD17B4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:118788138-118972894",
                            "ensembl_id": "ENSG00000133835"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:119452443-119637199",
                            "ensembl_id": "ENSG00000133835"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-09-14"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "D-bifunctional protein deficiency, 261515",
                "Perrault syndrome 1, 233400"
            ],
            "entity_name": "HSD17B4",
            "entity_type": "gene",
            "publications": [
                "PMID:10199776",
                "10400999",
                "10748062",
                "11743515",
                "11992265",
                "15216544",
                "16385454",
                "180535",
                "20673864",
                "23181892",
                "24553428",
                "2868085",
                "2882519",
                "2921319",
                "4061497",
                "7487879",
                "8279468",
                "8621399",
                "8902629",
                "8938456",
                "9089413",
                "9133619",
                "9197465",
                "9345094",
                "9482850",
                "9880674",
                "9915948"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "MGC50831"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28741",
                "gene_name": "immunoglobulin like domain containing receptor 1",
                "omim_gene": [
                    "609739"
                ],
                "alias_name": null,
                "gene_symbol": "ILDR1",
                "hgnc_symbol": "ILDR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:121706170-121741051",
                            "ensembl_id": "ENSG00000145103"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:121987323-122022204",
                            "ensembl_id": "ENSG00000145103"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-07-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Deafness, autosomal recessive 42, 609646"
            ],
            "entity_name": "ILDR1",
            "entity_type": "gene",
            "publications": [
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                "15641023",
                "21255762",
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        },
        {
            "tags": [],
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                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
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                "hgnc_id": "HGNC:6215",
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                ],
                "alias_name": [
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                ],
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                "hgnc_symbol": "KARS",
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            "entity_name": "KARS",
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                "11331948",
                "15851690",
                "20920668",
                "21181198",
                "23768514",
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                "8514867",
                "8812440"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "minK",
                    "ISK",
                    "JLNS2",
                    "LQT5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6240",
                "gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 1",
                "omim_gene": [
                    "176261"
                ],
                "alias_name": null,
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                "hgnc_symbol": "KCNE1",
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                            "ensembl_id": "ENSG00000180509"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1991-08-13"
            },
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                "Jervell and Lange-Nielsen syndrome 2, 612347",
                "JLNS",
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                "10973849",
                "11438691",
                "11799244",
                "12670425",
                "14760488",
                "15051636",
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                "8899564",
                "8900282",
                "8900283",
                "9230439",
                "9354783",
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                "9693036",
                "9790991"
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        {
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            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
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                    "Kir1.2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6256",
                "gene_name": "potassium voltage-gated channel subfamily J member 10",
                "omim_gene": [
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                "alias_name": null,
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                "hgnc_symbol": "KCNJ10",
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                            "ensembl_id": "ENSG00000177807"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-07-26"
            },
            "penetrance": "Complete",
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                "#600791:Enlarged vestibular aqueduct, digenic",
                "#612780:SESAME syndrome",
                "Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome",
                "Nonsyndromic Hearing Loss, Mixed"
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            "entity_name": "KCNJ10",
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                "11466414",
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                "19426954",
                "20651251",
                "20807765",
                "21849804",
                "22328087",
                "7580148",
                "7608203",
                "9367690"
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        },
        {
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                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
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                "gene_name": "potassium voltage-gated channel subfamily Q member 1",
                "omim_gene": [
                    "607542"
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                "hgnc_symbol": "KCNQ1",
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                "9781056",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory"
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                "omim_gene": [
                    "603537"
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                "alias_name": null,
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                "hgnc_symbol": "KCNQ4",
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        },
        {
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            "evidence": [
                "Expert Review Green",
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                "UKGTN"
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                    "SCFR",
                    "C-Kit"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6342",
                "gene_name": "KIT proto-oncogene receptor tyrosine kinase",
                "omim_gene": [
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                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
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            "entity_name": "KIT",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
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                    "LEURS",
                    "MGC26121",
                    "mtLeuRS"
                ],
                "biotype": "protein_coding",
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                "gene_name": "leucyl-tRNA synthetase 2, mitochondrial",
                "omim_gene": [
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                },
                "hgnc_date_symbol_changed": "2003-09-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#615300: Perrault syndrome 4"
            ],
            "entity_name": "LARS2",
            "entity_type": "gene",
            "publications": [
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
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                "omim_gene": [
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                ],
                "alias_name": [
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                "hgnc_symbol": "LHFPL5",
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            },
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                "Deafness, autosomal recessive 67, 610265"
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            "entity_name": "LHFPL5",
            "entity_type": "gene",
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                "16459341",
                "16752389"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "Emory Genetics Laboratory",
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                "omim_gene": [
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                "hgnc_date_symbol_changed": "2004-04-30"
            },
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                "Deafness, autosomal recessive 77, 613079",
                "hearing loss"
            ],
            "entity_name": "LOXHD1",
            "entity_type": "gene",
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                "19732867",
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                "22341973"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
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            "gene_data": {
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                    "CFAP111"
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                },
                "hgnc_date_symbol_changed": "2008-11-27"
            },
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                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 63, 611451",
                "hearing loss"
            ],
            "entity_name": "LRTOMT",
            "entity_type": "gene",
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                "17166180",
                "17211611",
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                "18953341"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
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                    "TRIC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26401",
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                "omim_gene": [
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                ],
                "alias_name": [
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                "gene_symbol": "MARVELD2",
                "hgnc_symbol": "MARVELD2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:68710939-68740157",
                            "ensembl_id": "ENSG00000152939"
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                    },
                    "GRch38": {
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                    }
                },
                "hgnc_date_symbol_changed": "2004-07-14"
            },
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            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 49, 610153",
                "hearing loss"
            ],
            "entity_name": "MARVELD2",
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            "publications": [
                "PMID:16365161",
                "17186462",
                "18084694"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
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                    "MASP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6901",
                "gene_name": "mannan binding lectin serine peptidase 1",
                "omim_gene": [
                    "600521"
                ],
                "alias_name": [
                    "C4/C2 activating component of Ra-reactive factor"
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                "gene_symbol": "MASP1",
                "hgnc_symbol": "MASP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:186935942-187009810",
                            "ensembl_id": "ENSG00000127241"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000127241"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-07-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#257920: 3MC syndrome 1"
            ],
            "entity_name": "MASP1",
            "entity_type": "gene",
            "publications": [
                "PMID:10475605",
                "10946292",
                "11485744",
                "17937425",
                "18266249",
                "19564340",
                "21035106",
                "21258343",
                "22966085",
                "7759119",
                "8018603",
                "8240317",
                "8921412"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "MI",
                    "bHLHe32"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7105",
                "gene_name": "melanogenesis associated transcription factor",
                "omim_gene": [
                    "156845"
                ],
                "alias_name": [
                    "homolog of mouse microphthalmia"
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                "gene_symbol": "MITF",
                "hgnc_symbol": "MITF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000187098"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-10-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Waardenburg syndrome, type 2A, 193510",
                "Waardenburg syndrome/ocular albinism, digenic, 103470",
                "Tietz albinism-deafness syndrome, 103500",
                "{Melanoma, cutaneous malignant, susceptibility to, 8}, 614456"
            ],
            "entity_name": "MITF",
            "entity_type": "gene",
            "publications": [
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                "10587587",
                "10760582",
                "10851256",
                "10942418",
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                "19188590",
                "22012259",
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                "26168401",
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                "9158138",
                "9499424",
                "9500554",
                "9546825",
                "9677380",
                "9856573",
                "27889061"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "FLJ36866",
                    "DKFZp686C1178"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27375",
                "gene_name": "methionine sulfoxide reductase B3",
                "omim_gene": [
                    "613719"
                ],
                "alias_name": null,
                "gene_symbol": "MSRB3",
                "hgnc_symbol": "MSRB3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:65672423-65882024",
                            "ensembl_id": "ENSG00000174099"
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                    },
                    "GRch38": {
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                            "location": "12:65278643-65488244",
                            "ensembl_id": "ENSG00000174099"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-12-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Deafness, autosomal recessive 74, 613718"
            ],
            "entity_name": "MSRB3",
            "entity_type": "gene",
            "publications": [
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                "15249228",
                "19650862",
                "21185009",
                "24191262"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "locus-type-rna-ribosomal"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "Mt_rRNA",
                "hgnc_id": "HGNC:7470",
                "gene_name": "mitochondrially encoded 12S RNA",
                "omim_gene": [
                    "561000"
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                "alias_name": [
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                ],
                "gene_symbol": "MT-RNR1",
                "hgnc_symbol": "MT-RNR1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "MT:648-1601",
                            "ensembl_id": "ENSG00000211459"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000211459"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Mitochondrial-Related Deafness",
                "DEAFNESS, AMINOGLYCOSIDE-INDUCED",
                "DEAFNESS",
                "AUDITORY NEUROPATHY, INCLUDED",
                "DEAFNESS",
                "DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL",
                "CARDIOMYOPATHY, RESTRICTIVE, INCLUDED"
            ],
            "entity_name": "MT-RNR1",
            "entity_type": "gene",
            "publications": [
                "PMID:10220138",
                "10326749",
                "10521300",
                "10577941",
                "10788333",
                "10915767",
                "11079536",
                "11313749",
                "11388757",
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                "16375862",
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                "16458854",
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                "16631122",
                "16782057",
                "16826519",
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                "18983818",
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                "9039999",
                "9391883",
                "9490575",
                "9632174",
                "9779807",
                "9887373",
                "9915970"
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            "confidence_level": "3",
            "mode_of_inheritance": "MITOCHONDRIAL",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "TRNS1"
                ],
                "biotype": "Mt_tRNA",
                "hgnc_id": "HGNC:7497",
                "gene_name": "mitochondrially encoded tRNA serine 1 (UCN)",
                "omim_gene": [
                    "590080"
                ],
                "alias_name": null,
                "gene_symbol": "MT-TS1",
                "hgnc_symbol": "MT-TS1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "MT:7446-7514",
                            "ensembl_id": "ENSG00000210151"
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                    },
                    "GRch38": {
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                            "location": "MT:7446-7514",
                            "ensembl_id": "ENSG00000210151"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-02-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MERRF/MELAS OVERLAP SYNDROME",
                "MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY",
                "KERATODERMA, PALMOPLANTAR, WITH DEAFNESS",
                "DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL",
                "DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED",
                "EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA"
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            "entity_name": "MT-TS1",
            "entity_type": "gene",
            "publications": [
                "PMID:10094190",
                "10340654",
                "10371545",
                "10545608",
                "10978361",
                "11069477",
                "11175301",
                "11378827",
                "12461693",
                "127819",
                "14605505",
                "17659260",
                "20153673",
                "6213205",
                "7219534",
                "7581383",
                "7669057",
                "7987332",
                "8019558",
                "8572257",
                "9450881",
                "9742104",
                "9832034",
                "29299381"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MITOCHONDRIAL",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13881",
                    "KIAA2034",
                    "MHC16",
                    "MYH17"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23212",
                "gene_name": "myosin heavy chain 14",
                "omim_gene": [
                    "608568"
                ],
                "alias_name": null,
                "gene_symbol": "MYH14",
                "hgnc_symbol": "MYH14",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:50691443-50813802",
                            "ensembl_id": "ENSG00000105357"
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                    },
                    "GRch38": {
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                            "location": "19:50188186-50310545",
                            "ensembl_id": "ENSG00000105357"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Dominant",
                "Deafness, autosomal dominant 4A, 600652",
                "?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369"
            ],
            "entity_name": "MYH14",
            "entity_type": "gene",
            "publications": [
                "PMID:12909352",
                "14594953",
                "15015131",
                "15845534",
                "16222661",
                "21480433"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "NMMHCA",
                    "NMHC-II-A",
                    "MHA",
                    "FTNS",
                    "EPSTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7579",
                "gene_name": "myosin heavy chain 9",
                "omim_gene": [
                    "160775"
                ],
                "alias_name": [
                    "nonmuscle myosin heavy chain II-A"
                ],
                "gene_symbol": "MYH9",
                "hgnc_symbol": "MYH9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36677327-36784063",
                            "ensembl_id": "ENSG00000100345"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36281281-36388018",
                            "ensembl_id": "ENSG00000100345"
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                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Dominant",
                "May-Hegglin anomaly, 155100",
                "Fechtner syndrome, 153640",
                "Sebastian syndrome, 605249",
                "Deafness, autosomal dominant 17, 603622",
                "Epstein syndrome, 153650",
                "Macrothrombocytopenia and progressive sensorineural deafness, 600208"
            ],
            "entity_name": "MYH9",
            "entity_type": "gene",
            "publications": [
                "PMID:10603121",
                "10739770",
                "10973259",
                "10973260",
                "11023810",
                "11093280",
                "11159552",
                "11590545",
                "11752022",
                "11776386",
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                "11943476",
                "12237319",
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                "12649151",
                "12792306",
                "1449176",
                "15064761",
                "15496418",
                "15555549",
                "15613099",
                "15667538",
                "16162639",
                "16630581",
                "16969870",
                "17146397",
                "18059020",
                "1860190",
                "18794854",
                "18794856",
                "1912569",
                "19450438",
                "1967836",
                "20485438",
                "20944748",
                "21501827",
                "24436421",
                "5011389",
                "8280620",
                "9390828"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7594",
                "gene_name": "myosin XVA",
                "omim_gene": [
                    "602666"
                ],
                "alias_name": null,
                "gene_symbol": "MYO15A",
                "hgnc_symbol": "MYO15A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:18012020-18083116",
                            "ensembl_id": "ENSG00000091536"
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                    },
                    "GRch38": {
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                            "location": "17:18108706-18179802",
                            "ensembl_id": "ENSG00000091536"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-05-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 3, 600316",
                "hearing loss"
            ],
            "entity_name": "MYO15A",
            "entity_type": "gene",
            "publications": [
                "PMID:10552926",
                "10915760",
                "11735029",
                "12966030",
                "15590698",
                "15654330",
                "17546645",
                "17851452",
                "17853461",
                "21236676",
                "7704031",
                "9603735",
                "9603736"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7601",
                "gene_name": "myosin IIIA",
                "omim_gene": [
                    "606808"
                ],
                "alias_name": null,
                "gene_symbol": "MYO3A",
                "hgnc_symbol": "MYO3A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:26223196-26501456",
                            "ensembl_id": "ENSG00000095777"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:25934267-26212527",
                            "ensembl_id": "ENSG00000095777"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-05-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 30, 607101",
                "hearing loss"
            ],
            "entity_name": "MYO3A",
            "entity_type": "gene",
            "publications": [
                "PMID:10936054",
                "12032315",
                "21165622"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0389"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7605",
                "gene_name": "myosin VI",
                "omim_gene": [
                    "600970"
                ],
                "alias_name": null,
                "gene_symbol": "MYO6",
                "hgnc_symbol": "MYO6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:76458909-76629254",
                            "ensembl_id": "ENSG00000196586"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:75749192-75919537",
                            "ensembl_id": "ENSG00000196586"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-04-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Dominant",
                "Deafness, autosomal dominant 22, 606346",
                "Nonsyndromic Hearing Loss, Recessive",
                "#606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy",
                "#607821:Deafness, autosomal recessive 37"
            ],
            "entity_name": "MYO6",
            "entity_type": "gene",
            "publications": [
                "PMID:10519557",
                "11167014",
                "11468689",
                "11707568",
                "12134162",
                "12687499",
                "12966030",
                "15006355",
                "15060111",
                "15123708",
                "15721263",
                "15944696",
                "16908842",
                "16949370",
                "18212818",
                "18348273",
                "19417007",
                "19744958",
                "7493015",
                "7929586",
                "8884266",
                "9259267"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "NSRD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7606",
                "gene_name": "myosin VIIA",
                "omim_gene": [
                    "276903"
                ],
                "alias_name": null,
                "gene_symbol": "MYO7A",
                "hgnc_symbol": "MYO7A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:76839310-76926284",
                            "ensembl_id": "ENSG00000137474"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:77128264-77215239",
                            "ensembl_id": "ENSG00000137474"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-06-08"
            },
            "penetrance": "Complete",
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        },
        {
            "tags": [],
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            "entity_name": "OPA1",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
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                "Radboud University Medical Center, Nijmegen"
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            "entity_name": "OSBPL2",
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        {
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                "hgnc_symbol": "OTOA",
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                "#607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies]"
            ],
            "entity_name": "OTOA",
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                "23173898"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "Emory Genetics Laboratory",
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                "Illumina TruGenome Clinical Sequencing Services"
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                "alias_name": [
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                "gene_symbol": "OTOF",
                "hgnc_symbol": "OTOF",
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                "Deafness, autosomal recessive 9, 601071",
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                "Auditory neuropathy, autosomal recessive, 1, 601071"
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            "entity_name": "OTOF",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "OTOG",
                "hgnc_symbol": "OTOG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
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                },
                "hgnc_date_symbol_changed": "1998-05-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal recessive 18B, 614945"
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            "entity_name": "OTOG",
            "entity_type": "gene",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Radboud University Medical Center, Nijmegen"
            ],
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                "biotype": "protein_coding",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "OTOGL",
                "hgnc_symbol": "OTOGL",
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                "ensembl_genes": {
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                    },
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                "hgnc_date_symbol_changed": "2011-02-11"
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            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal recessive 84B, 614944"
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            "entity_name": "OTOGL",
            "entity_type": "gene",
            "publications": [
                "23122586"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15459",
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                "omim_gene": [
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                "hgnc_symbol": "P2RX2",
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                "hgnc_date_symbol_changed": "2001-03-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal dominant 41, 608224"
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            "entity_name": "P2RX2",
            "entity_type": "gene",
            "publications": [
                "PMID:10493739",
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                "23592720",
                "24211385",
                "7523952",
                "7566120"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8616",
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                "gene_symbol": "PAX2",
                "hgnc_symbol": "PAX2",
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                "ensembl_genes": {
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            "penetrance": "Complete",
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                "RENAL-COLOBOMA SYNDROME",
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            "entity_name": "PAX2",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
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                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8617",
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                    "606597"
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                "alias_name": null,
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                "hgnc_symbol": "PAX3",
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                "ensembl_genes": {
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                "#122880:Craniofacial-deafness-hand syndrome",
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                "9500554"
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        {
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                "omim_gene": [
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                "alias_name": [
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                "ensembl_genes": {
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            "entity_name": "PCDH15",
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                "22981120",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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                "Expert Review Green",
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26257",
                "gene_name": "PDZ domain containing 7",
                "omim_gene": [
                    "612971"
                ],
                "alias_name": null,
                "gene_symbol": "PDZD7",
                "hgnc_symbol": "PDZD7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                },
                "hgnc_date_symbol_changed": "2006-01-24"
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            "penetrance": "Complete",
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                "Combined oxidative phosphorylation deficiency 13, 614932",
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            "confidence_level": "3",
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        {
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                "Emory Genetics Laboratory",
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                "Illumina TruGenome Clinical Sequencing Services"
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                    "DFNX2"
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                "omim_gene": [
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                "alias_name": [
                    "brain-4"
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                "hgnc_symbol": "POU3F4",
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                "Deafness, X-linked 2, 304400",
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                "Nonsyndromic Hearing Loss, X-Linked"
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                "1783396",
                "1922747",
                "22139968",
                "23076972",
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                "9109724",
                "9298820"
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            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
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                    "BRN3C"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9220",
                "gene_name": "POU class 4 homeobox 3",
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                    "602460"
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                "alias_name": null,
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                "hgnc_symbol": "POU4F3",
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                "Deafness, autosomal dominant 15, 602459"
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            "entity_name": "POU4F3",
            "entity_type": "gene",
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                "18228599",
                "20434433",
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                "9506947"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        {
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                "Expert Review Green",
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                "Illumina TruGenome Clinical Sequencing Services"
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                    "DFNX1"
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                "biotype": "protein_coding",
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                "gene_symbol": "PRPS1",
                "hgnc_symbol": "PRPS1",
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                "hgnc_date_symbol_changed": "2001-06-22"
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            "penetrance": "Complete",
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                "Nonsyndromic Hearing Loss, X-Linked",
                "Gout, PRPS-related, 300661",
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                "#300661:Phosphoribosylpyrophosphate synthetase superactivity",
                "#301835:Arts syndrome",
                "#304500:Deafness, X-linked 1",
                "#311070:Charcot-Marie-Tooth disease, X-linked recessive, 5"
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            "entity_name": "PRPS1",
            "entity_type": "gene",
            "publications": [
                "PMID:10503584",
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                "168665",
                "171280",
                "17701896",
                "17701900",
                "1962753",
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                "7593598",
                "8253776",
                "8498830",
                "8968763"
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            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
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                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9679",
                "gene_name": "protein tyrosine phosphatase, receptor type Q",
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                    "603317"
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                "alias_name": null,
                "gene_symbol": "PTPRQ",
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                    },
                    "GRch38": {
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                "hgnc_date_symbol_changed": "1998-03-24"
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            "penetrance": "Complete",
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                "Deafness, autosomal recessive 84A, 613391",
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            "entity_name": "PTPRQ",
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        {
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                "Expert Review Green",
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                "Emory Genetics Laboratory",
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                "Illumina TruGenome Clinical Sequencing Services"
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            "gene_data": {
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                "biotype": "protein_coding",
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                "alias_name": null,
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                "hgnc_symbol": "RDX",
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                "Nonsyndromic Hearing Loss, Recessive",
                "Deafness, autosomal recessive 24, 611022",
                "hearing loss"
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            "entity_name": "RDX",
            "entity_type": "gene",
            "publications": [
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                "14758359",
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                "17226784",
                "19215054",
                "8486357"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "Gpcr13",
                    "H218",
                    "AGR16"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3169",
                "gene_name": "sphingosine-1-phosphate receptor 2",
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                    "605111"
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                "alias_name": null,
                "gene_symbol": "S1PR2",
                "hgnc_symbol": "S1PR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "19:10334520-10341948",
                            "ensembl_id": "ENSG00000267534"
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                    },
                    "GRch38": {
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                            "location": "19:10221435-10231272",
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                "hgnc_date_symbol_changed": "2008-04-30"
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            "penetrance": "Complete",
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                "Deafness, autosomal recessive 68 610419"
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            "entity_name": "S1PR2",
            "entity_type": "gene",
            "publications": [
                "26805784",
                "29776397"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "Hsal1",
                    "ZNF794"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10524",
                "gene_name": "spalt like transcription factor 1",
                "omim_gene": [
                    "602218"
                ],
                "alias_name": null,
                "gene_symbol": "SALL1",
                "hgnc_symbol": "SALL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:51169886-51185278",
                            "ensembl_id": "ENSG00000103449"
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                    },
                    "GRch38": {
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                            "location": "16:51135975-51151367",
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                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#107480:Townes-Brocks syndrome",
                "Townes-Brocks branchiootorenal-like syndrome"
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            "entity_name": "SALL1",
            "entity_type": "gene",
            "publications": [
                "PMID:10533063",
                "10928856",
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                "11102974",
                "11478532",
                "11484202",
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                "11751684",
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                "8133838",
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                "8975705",
                "9425907",
                "9973281"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "dJ1112F19.1",
                    "ZNF797"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15924",
                "gene_name": "spalt like transcription factor 4",
                "omim_gene": [
                    "607343"
                ],
                "alias_name": null,
                "gene_symbol": "SALL4",
                "hgnc_symbol": "SALL4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "20:50400581-50419059",
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                    },
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                },
                "hgnc_date_symbol_changed": "2001-06-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Duane-radial ray syndrome 607323",
                "IVIC syndrome\t147750"
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            "entity_name": "SALL4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14917"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21061",
                "gene_name": "serine active site containing 1",
                "omim_gene": [
                    "614725"
                ],
                "alias_name": null,
                "gene_symbol": "SERAC1",
                "hgnc_symbol": "SERAC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "6:158530536-158589312",
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                    },
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                            "location": "6:158109515-158168270",
                            "ensembl_id": "ENSG00000122335"
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                },
                "hgnc_date_symbol_changed": "2003-05-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739",
                "MEGDEL syndrome",
                "3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome",
                "MEGDHEL syndrome"
            ],
            "entity_name": "SERAC1",
            "entity_type": "gene",
            "publications": [
                "29205472",
                "22683713",
                "16527507",
                "28482397",
                "28778788",
                "27186703",
                "27604308",
                "23707711",
                "16527507"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
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                    "PTI",
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                "biotype": "protein_coding",
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                "omim_gene": [
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                ],
                "gene_symbol": "SERPINB6",
                "hgnc_symbol": "SERPINB6",
                "hgnc_release": "2017-11-03T00:00:00",
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                    },
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                },
                "hgnc_date_symbol_changed": "1994-07-20"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Deafness, autosomal recessive 91, 613453"
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            "entity_name": "SERPINB6",
            "entity_type": "gene",
            "publications": [
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                "15082799",
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        },
        {
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                    "SPL"
                ],
                "biotype": "protein_coding",
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                "gene_name": "sphingosine-1-phosphate lyase 1",
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                ],
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                "hgnc_symbol": "SGPL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "10:72575717-72640930",
                            "ensembl_id": "ENSG00000166224"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000166224"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-02-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nephrotic syndrome 14\t617575"
            ],
            "entity_name": "SGPL1",
            "entity_type": "gene",
            "publications": [
                "28181337",
                "28165339",
                "28165343"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10887",
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                "omim_gene": [
                    "601205"
                ],
                "alias_name": null,
                "gene_symbol": "SIX1",
                "hgnc_symbol": "SIX1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "14:61110133-61124977",
                            "ensembl_id": "ENSG00000126778"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000126778"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-09-29"
            },
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                "23531866",
                "8595423",
                "9771706",
                "9817917"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "CIP98",
                    "USH2D",
                    "PDZD7B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16361",
                "gene_name": "whirlin",
                "omim_gene": [
                    "607928"
                ],
                "alias_name": null,
                "gene_symbol": "WHRN",
                "hgnc_symbol": "WHRN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:117164360-117267730",
                            "ensembl_id": "ENSG00000095397"
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                            "ensembl_id": "ENSG00000095397"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-05-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#607084:Deafness, autosomal recessive 31",
                "#611383:Usher syndrome, type 2D",
                "hearing loss",
                "Nonsyndromic Hearing Loss, Recessive"
            ],
            "entity_name": "WHRN",
            "entity_type": "gene",
            "publications": [
                "PMID: 10819331",
                "11973626",
                "12641734",
                "12833159",
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                "15590699",
                "15654330",
                "15841483",
                "16434480",
                "16829577",
                "17171570",
                "17906286",
                "22147658"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "PMCA2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:815",
                "gene_name": "ATPase plasma membrane Ca2+ transporting 2",
                "omim_gene": [
                    "108733"
                ],
                "alias_name": [
                    "plasma membrane Ca2+ pump 2",
                    "plasma membrane calcium-transporting ATPase 2"
                ],
                "gene_symbol": "ATP2B2",
                "hgnc_symbol": "ATP2B2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:10365707-10749716",
                            "ensembl_id": "ENSG00000157087"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:10324023-10708031",
                            "ensembl_id": "ENSG00000157087"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-06-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "{Deafness, autosomal recessive 12, modifier of} 601386"
            ],
            "entity_name": "ATP2B2",
            "entity_type": "gene",
            "publications": [
                "30535804",
                "17234811"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "DFNB102"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13517",
                "gene_name": "chloride intracellular channel 5",
                "omim_gene": [
                    "607293"
                ],
                "alias_name": null,
                "gene_symbol": "CLIC5",
                "hgnc_symbol": "CLIC5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:45868045-46048132",
                            "ensembl_id": "ENSG00000112782"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:45898451-46080395",
                            "ensembl_id": "ENSG00000112782"
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                    }
                },
                "hgnc_date_symbol_changed": "2000-10-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#616042:?Deafness, autosomal recessive 103",
                "PMID: 24781754 (Nijjmegen group) progressive hearing impairment, vestibular and possibly mild renal dysfunction"
            ],
            "entity_name": "CLIC5",
            "entity_type": "gene",
            "publications": [
                "PMID:10793131",
                "17021174",
                "18028448",
                "24781754"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "SMAC",
                    "DIABLO-S",
                    "FLJ25049",
                    "FLJ10537",
                    "DFNA64"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21528",
                "gene_name": "diablo IAP-binding mitochondrial protein",
                "omim_gene": [
                    "605219"
                ],
                "alias_name": [
                    "second mitochondria-derived activator of caspase"
                ],
                "gene_symbol": "DIABLO",
                "hgnc_symbol": "DIABLO",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:122692210-122712081",
                            "ensembl_id": "ENSG00000184047"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:122207662-122227534",
                            "ensembl_id": "ENSG00000184047"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "#614152:Deafness, autosomal dominant 64"
            ],
            "entity_name": "DIABLO",
            "entity_type": "gene",
            "publications": [
                "10929711",
                "10929712",
                "10972280",
                "11140637",
                "11140638",
                "11242052",
                "11971981",
                "15557007",
                "15814844",
                "21722859",
                "21722859",
                "26969326"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "DRF3",
                    "FLJ34705",
                    "AN",
                    "NSDAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15480",
                "gene_name": "diaphanous related formin 3",
                "omim_gene": [
                    "614567"
                ],
                "alias_name": null,
                "gene_symbol": "DIAPH3",
                "hgnc_symbol": "DIAPH3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:60239717-60738121",
                            "ensembl_id": "ENSG00000139734"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:59665583-60163987",
                            "ensembl_id": "ENSG00000139734"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-05-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Auditory neuropathy, autosomal dominant, 1, 609129"
            ],
            "entity_name": "DIAPH3",
            "entity_type": "gene",
            "publications": [
                "14767582",
                "15520414",
                "18755006",
                "19457867",
                "20624953",
                "20624953",
                "27658576"
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            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "RC3",
                    "KIAA0856",
                    "DFNA71"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2938",
                "gene_name": "Dmx like 2",
                "omim_gene": [
                    "612186"
                ],
                "alias_name": [
                    "rabconnectin 3"
                ],
                "gene_symbol": "DMXL2",
                "hgnc_symbol": "DMXL2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:51739908-51915030",
                            "ensembl_id": "ENSG00000104093"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:51447711-51622833",
                            "ensembl_id": "ENSG00000104093"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Sensorineural Hearing Loss",
                "ORPHA90636",
                "OMIM:612186"
            ],
            "entity_name": "DMXL2",
            "entity_type": "gene",
            "publications": [
                "27657680",
                "22875945",
                "25248098"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Eligibility statement prior genetic testing",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "EDH",
                    "HED",
                    "CX30"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4288",
                "gene_name": "gap junction protein beta 6",
                "omim_gene": [
                    "604418"
                ],
                "alias_name": [
                    "connexin 30"
                ],
                "gene_symbol": "GJB6",
                "hgnc_symbol": "GJB6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:20796110-20806534",
                            "ensembl_id": "ENSG00000121742"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:20221971-20232395",
                            "ensembl_id": "ENSG00000121742"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-07-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "hearing loss",
                "Deafness, autosomal dominant 3B, 612643",
                "Deafness, autosomal recessive 1B, 612645",
                "Deafness, digenic GJB2/GJB6, 220290",
                "Ectodermal dysplasia 2, Clouston type, 129500",
                "Nonsyndromic Hearing Loss, Dominant"
            ],
            "entity_name": "GJB6",
            "entity_type": "gene",
            "publications": [
                "PMID:10471490",
                "10570462",
                "10610709",
                "11017065",
                "11807148",
                "11874494",
                "11896458",
                "12419304",
                "12490528",
                "12668604",
                "14571368",
                "15150777",
                "15213106",
                "15638823",
                "15994881",
                "17041943",
                "18324688",
                "20858605",
                "8663509",
                "9139825",
                "9799458"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "HO3",
                    "HARSR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4817",
                "gene_name": "histidyl-tRNA synthetase 2, mitochondrial",
                "omim_gene": [
                    "600783"
                ],
                "alias_name": [
                    "histidine tRNA ligase 2, mitochondrial (putative)"
                ],
                "gene_symbol": "HARS2",
                "hgnc_symbol": "HARS2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:140071011-140078889",
                            "ensembl_id": "ENSG00000112855"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:140691426-140699291",
                            "ensembl_id": "ENSG00000112855"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-02-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "#614926:?Perrault syndrome 2"
            ],
            "entity_name": "HARS2",
            "entity_type": "gene",
            "publications": [
                "12056811",
                "15779907",
                "21464306",
                "517579",
                "7755634",
                "27650058"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "SF",
                    "F-TCF",
                    "HGFB",
                    "HPTA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4893",
                "gene_name": "hepatocyte growth factor",
                "omim_gene": [
                    "142409"
                ],
                "alias_name": [
                    "hepatopoietin A",
                    "fibroblast-derived tumor cytotoxic factor",
                    "scatter factor",
                    "lung fibroblast-derived mitogen"
                ],
                "gene_symbol": "HGF",
                "hgnc_symbol": "HGF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:81328322-81399754",
                            "ensembl_id": "ENSG00000019991"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:81699006-81770438",
                            "ensembl_id": "ENSG00000019991"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nonsyndromic Hearing Loss, Mixed",
                "Deafness, autosomal recessive 39, 608265"
            ],
            "entity_name": "HGF",
            "entity_type": "gene",
            "publications": [
                "PMID:11343646",
                "11564764",
                "11565020",
                "12574630",
                "1386343",
                "14556002",
                "14691191",
                "1531136",
                "1535333",
                "15545993",
                "17467663",
                "1824873",
                "1831266",
                "1837534",
                "19188684",
                "19576567",
                "2142751",
                "21988987",
                "21988988",
                "22763439",
                "22763448",
                "2528952",
                "2531289",
                "3276728",
                "7624797",
                "7854452",
                "7854453",
                "8804995",
                "8898205",
                "19576567",
                "27610647"
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "SCF",
                    "SF",
                    "Kitl",
                    "KL-1",
                    "FPH2",
                    "SLF",
                    "DFNA69"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6343",
                "gene_name": "KIT ligand",
                "omim_gene": [
                    "184745"
                ],
                "alias_name": [
                    "mast cell growth factor",
                    "stem cell factor",
                    "steel factor",
                    "familial progressive hyperpigmentation 2"
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                "gene_symbol": "KITLG",
                "hgnc_symbol": "KITLG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:88886570-88974628",
                            "ensembl_id": "ENSG00000049130"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:88492793-88580851",
                            "ensembl_id": "ENSG00000049130"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-06-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal dominant 69, unilateral or asymmetric 616697"
            ],
            "entity_name": "KITLG",
            "entity_type": "gene",
            "publications": [
                "26522471",
                "28504826"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "locus-type-rna-micro"
            ],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "hsa-mir-96"
                ],
                "biotype": "miRNA",
                "hgnc_id": "HGNC:31648",
                "gene_name": "microRNA 96",
                "omim_gene": [
                    "611606"
                ],
                "alias_name": null,
                "gene_symbol": "MIR96",
                "hgnc_symbol": "MIR96",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:129414532-129414609",
                            "ensembl_id": "ENSG00000199158"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:129774692-129774769",
                            "ensembl_id": "ENSG00000199158"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-12-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Deafness, autosomal dominant 50 613074"
            ],
            "entity_name": "MIR96",
            "entity_type": "gene",
            "publications": [
                "19363479",
                "22038834",
                "30245029"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0386",
                    "DIFF48",
                    "MYONAP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13872",
                "gene_name": "RHO family interacting cell polarization regulator 2",
                "omim_gene": [
                    "611410"
                ],
                "alias_name": [
                    "myogenesis-related and NCAM-associated protein homolog (chicken)"
                ],
                "gene_symbol": "RIPOR2",
                "hgnc_symbol": "RIPOR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:24797601-25042238",
                            "ensembl_id": "ENSG00000111913"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "6:24804282-25042018",
                            "ensembl_id": "ENSG00000111913"
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                    }
                },
                "hgnc_date_symbol_changed": "2017-02-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hearing loss, non-syndromic, autosomal recessive (Diaz-Horta (2014) Proc Natl AcadSci USA 111,9864)",
                "Sensorineural hearing loss",
                "OrphaNet: ORPHA90636",
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            "entity_name": "RIPOR2",
            "entity_type": "gene",
            "publications": [
                "17150207",
                "24958875",
                "9055809",
                "9205841",
                "24958875",
                "27269051"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10891",
                "gene_name": "SIX homeobox 5",
                "omim_gene": [
                    "600963"
                ],
                "alias_name": null,
                "gene_symbol": "SIX5",
                "hgnc_symbol": "SIX5",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46268043-46272484",
                            "ensembl_id": "ENSG00000177045"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45764785-45769226",
                            "ensembl_id": "ENSG00000177045"
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            "mode_of_pathogenicity": null
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            "gene_data": {
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                "biotype": "protein_coding",
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            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CDKN1B",
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            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
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                "Expert"
            ],
            "gene_data": {
                "alias": [
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                    "p19"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1790",
                "gene_name": "cyclin dependent kinase inhibitor 2D",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "CDKN2D",
                "hgnc_symbol": "CDKN2D",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "19:10677138-10679735",
                            "ensembl_id": "ENSG00000129355"
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                    },
                    "GRch38": {
                        "90": {
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                },
                "hgnc_date_symbol_changed": "1995-07-06"
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            "penetrance": "Complete",
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            "entity_name": "CDKN2D",
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            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
        },
        {
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            "gene_data": {
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                "alias_name": [
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                "hgnc_release": "2017-11-03T00:00:00",
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            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14079",
                "gene_name": "cholinergic receptor nicotinic alpha 9 subunit",
                "omim_gene": [
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                "gene_symbol": "CHRNA9",
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                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "2000-11-29"
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            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CHRNA9",
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            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
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            "gene_data": {
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                    "ERIS",
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                "hgnc_id": "HGNC:24212",
                "gene_name": "CDGSH iron sulfur domain 2",
                "omim_gene": [
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                ],
                "alias_name": [
                    "mitoNEET related 1",
                    "endoplasmic reticulum intermembrane small protein",
                    "nutrient-deprivation autophagy factor-1"
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                "gene_symbol": "CISD2",
                "hgnc_symbol": "CISD2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "4:103790135-103810399",
                            "ensembl_id": "ENSG00000145354"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:102868978-102889242",
                            "ensembl_id": "ENSG00000145354"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-08-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
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            ],
            "entity_name": "CISD2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1991",
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                "omim_gene": [
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                "alias_name": [
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                ],
                "gene_symbol": "CKB",
                "hgnc_symbol": "CKB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000166165"
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                    },
                    "GRch38": {
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                            "location": "14:103519659-103523111",
                            "ensembl_id": "ENSG00000166165"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CKB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "OSP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8514",
                "gene_name": "claudin 11",
                "omim_gene": [
                    "601326"
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                "alias_name": null,
                "gene_symbol": "CLDN11",
                "hgnc_symbol": "CLDN11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "3:170136653-170578169",
                            "ensembl_id": "ENSG00000013297"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:170418865-170860380",
                            "ensembl_id": "ENSG00000013297"
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                },
                "hgnc_date_symbol_changed": "1996-09-13"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CLDN11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2051",
                "gene_name": "claudin 9",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "CLDN9",
                "hgnc_symbol": "CLDN9",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "16:3062457-3064506",
                            "ensembl_id": "ENSG00000213937"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:3012456-3014505",
                            "ensembl_id": "ENSG00000213937"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CLDN9",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "ICln"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2080",
                "gene_name": "chloride nucleotide-sensitive channel 1A",
                "omim_gene": [
                    "602158"
                ],
                "alias_name": [
                    "methylosome subunit pICln"
                ],
                "gene_symbol": "CLNS1A",
                "hgnc_symbol": "CLNS1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:77225981-77348850",
                            "ensembl_id": "ENSG00000074201"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:77514936-77637805",
                            "ensembl_id": "ENSG00000074201"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-10-16"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "CLNS1A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "STL2",
                    "CO11A1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2186",
                "gene_name": "collagen type XI alpha 1 chain",
                "omim_gene": [
                    "120280"
                ],
                "alias_name": [
                    "collagen XI, alpha-1 polypeptide"
                ],
                "gene_symbol": "COL11A1",
                "hgnc_symbol": "COL11A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:103342023-103574052",
                            "ensembl_id": "ENSG00000060718"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:102876467-103108496",
                            "ensembl_id": "ENSG00000060718"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Stickler syndrome, type II, 604841Marshall syndrome, 154780{Lumbar disc herniation, susceptibility to}, 603932Fibrochondrogenesis, 228520",
                "Sticklersyndrome,typeII,604841"
            ],
            "entity_name": "COL11A1",
            "entity_type": "gene",
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            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
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                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
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                    "STL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2200",
                "gene_name": "collagen type II alpha 1 chain",
                "omim_gene": [
                    "120140"
                ],
                "alias_name": null,
                "gene_symbol": "COL2A1",
                "hgnc_symbol": "COL2A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:48366748-48398269",
                            "ensembl_id": "ENSG00000139219"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:47972965-48004486",
                            "ensembl_id": "ENSG00000139219"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
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                "ticklersyndrome,typeI,108300Kniestdysplasia,156550Achondrogenesis,typeIIorhypochondrogenesis,200610SEDcongenita,183900"
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            "entity_name": "COL2A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2204",
                "gene_name": "collagen type IV alpha 3 chain",
                "omim_gene": [
                    "120070"
                ],
                "alias_name": [
                    "tumstatin"
                ],
                "gene_symbol": "COL4A3",
                "hgnc_symbol": "COL4A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:228029281-228179508",
                            "ensembl_id": "ENSG00000169031"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:227164565-227314792",
                            "ensembl_id": "ENSG00000169031"
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                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
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                "Alportsyndrome,autosomalrecessive,203780Hematuria,benignfamilial,141200Alportsyndrome,autosomaldominant,104200"
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            "entity_name": "COL4A3",
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            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "CA44"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2206",
                "gene_name": "collagen type IV alpha 4 chain",
                "omim_gene": [
                    "120131"
                ],
                "alias_name": [
                    "collagen of basement membrane, alpha-4 chain"
                ],
                "gene_symbol": "COL4A4",
                "hgnc_symbol": "COL4A4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "2:227867427-228028829",
                            "ensembl_id": "ENSG00000081052"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:227002711-227164113",
                            "ensembl_id": "ENSG00000081052"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-06-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Alport syndrome, autosomal recessive, 203780Hematuria,familial benign",
                "Alportsyndrome,autosomalrecessive,203780Hematuria,familialbenign"
            ],
            "entity_name": "COL4A4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2217",
                "gene_name": "collagen type IX alpha 1 chain",
                "omim_gene": [
                    "120210"
                ],
                "alias_name": null,
                "gene_symbol": "COL9A1",
                "hgnc_symbol": "COL9A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:70924764-71012786",
                            "ensembl_id": "ENSG00000112280"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:70215061-70303083",
                            "ensembl_id": "ENSG00000112280"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Epiphyseal dysplasia, multiple, 6, 614135Stickler syndrome, type IV, 614134",
                "Epiphysealdysplasia,multiple,6,614135Sticklersyndrome,typeIV,614134"
            ],
            "entity_name": "COL9A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
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            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "GP75",
                    "CATB",
                    "TRP",
                    "b-PROTEIN",
                    "OCA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12450",
                "gene_name": "tyrosinase related protein 1",
                "omim_gene": [
                    "115501"
                ],
                "alias_name": null,
                "gene_symbol": "TYRP1",
                "hgnc_symbol": "TYRP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:12685439-12710290",
                            "ensembl_id": "ENSG00000107165"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:12685439-12710290",
                            "ensembl_id": "ENSG00000107165"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-04"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "TYRP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "UROC",
                    "UI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12516",
                "gene_name": "urocortin",
                "omim_gene": [
                    "600945"
                ],
                "alias_name": [
                    "prepro-urocortin"
                ],
                "gene_symbol": "UCN",
                "hgnc_symbol": "UCN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:27530268-27531313",
                            "ensembl_id": "ENSG00000163794"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:27307400-27308445",
                            "ensembl_id": "ENSG00000163794"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "UCN",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1215",
                    "LTAP",
                    "LPP1",
                    "STBM",
                    "STB1",
                    "STBM1",
                    "MGC119403",
                    "MGC119404"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15511",
                "gene_name": "VANGL planar cell polarity protein 2",
                "omim_gene": [
                    "600533"
                ],
                "alias_name": [
                    "vang, van gogh-like 2",
                    "loop-tail-associated protein",
                    "strabismus"
                ],
                "gene_symbol": "VANGL2",
                "hgnc_symbol": "VANGL2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:160370376-160398468",
                            "ensembl_id": "ENSG00000162738"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:160400586-160428678",
                            "ensembl_id": "ENSG00000162738"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-04-06"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "VANGL2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "XPAC",
                    "XP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12814",
                "gene_name": "XPA, DNA damage recognition and repair factor",
                "omim_gene": [
                    "611153"
                ],
                "alias_name": null,
                "gene_symbol": "XPA",
                "hgnc_symbol": "XPA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:100437191-100459639",
                            "ensembl_id": "ENSG00000136936"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:97674909-97697357",
                            "ensembl_id": "ENSG00000136936"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "XPA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert"
            ],
            "gene_data": {
                "alias": [
                    "XPCC",
                    "RAD4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12816",
                "gene_name": "XPC complex subunit, DNA damage recognition and repair factor",
                "omim_gene": [
                    "613208"
                ],
                "alias_name": [
                    "xeroderma pigmentosum group C protein"
                ],
                "gene_symbol": "XPC",
                "hgnc_symbol": "XPC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:14186647-14220283",
                            "ensembl_id": "ENSG00000154767"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:14145147-14178783",
                            "ensembl_id": "ENSG00000154767"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-10-05"
            },
            "penetrance": "Complete",
            "phenotypes": [],
            "entity_name": "XPC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "YAP65"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16262",
                "gene_name": "Yes associated protein 1",
                "omim_gene": [
                    "606608"
                ],
                "alias_name": null,
                "gene_symbol": "YAP1",
                "hgnc_symbol": "YAP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:101981192-102104154",
                            "ensembl_id": "ENSG00000137693"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:102110461-102233423",
                            "ensembl_id": "ENSG00000137693"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-07-17"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Coloboma, ocular, 120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433"
            ],
            "entity_name": "YAP1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 358,
        "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 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."
        }
    ],
    "status": "public",
    "hash_id": "558ac48fbb5a16630dcfeaad",
    "regions": [],
    "version": "2.1",
    "disease_group": "Hearing and ear disorders",
    "version_created": "2019-08-29T08:12:45.188033Z",
    "disease_sub_group": "Non-syndromic hearing loss",
    "relevant_disorders": [
        "Congenital hearing impairment",
        "Autosomal dominant deafness",
        "Congenital hearing impairment (profound/severe)",
        "R67"
    ]
}