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{
    "id": 162,
    "name": "Severe microcephaly",
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                "Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly)",
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                "Fanconi anemia, complementation group D1, 605724 (Microcephaly)"
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            "penetrance": "Complete",
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                "Fanconi anemia, complementation group J, 609054"
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                "MCPH",
                "primary microcephaly",
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                            "ensembl_id": "ENSG00000182923"
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "MCPH",
                "primary microcephaly",
                "?Seckel syndrome 6, 614728",
                "Microcephaly"
            ],
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            "entity_name": "CEP63",
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                "26158450"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Literature"
            ],
            "gene_data": {
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                    "STK21",
                    "CRIK",
                    "CITK"
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                "hgnc_id": "HGNC:1985",
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                "omim_gene": [
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                "hgnc_symbol": "CIT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "12:120123595-120315095",
                            "ensembl_id": "ENSG00000122966"
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                    },
                    "GRch38": {
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                            "location": "12:119685790-119877291",
                            "ensembl_id": "ENSG00000122966"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-08-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "autosomal-recessive primary microcephaly",
                "MCPH",
                "Microcephaly 17, primary, autosomal recessive, 617090"
            ],
            "transcript": null,
            "entity_name": "CIT",
            "entity_type": "gene",
            "publications": [
                "27453578"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FLJ40629",
                    "radmis"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26877",
                "gene_name": "cytoskeleton associated protein 2 like",
                "omim_gene": [
                    "616174"
                ],
                "alias_name": [
                    "radial fiber and mitotic spindle"
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                "gene_symbol": "CKAP2L",
                "hgnc_symbol": "CKAP2L",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:113493930-113522254",
                            "ensembl_id": "ENSG00000169607"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:112736607-112764677",
                            "ensembl_id": "ENSG00000169607"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-03-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION",
                "Filippi syndrome, 272440"
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            "transcript": null,
            "entity_name": "CKAP2L",
            "entity_type": "gene",
            "publications": [
                "25439729"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
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                    "CBP",
                    "KAT3A"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2348",
                "gene_name": "CREB binding protein",
                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "CREBBP",
                "hgnc_symbol": "CREBBP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:3775055-3930727",
                            "ensembl_id": "ENSG00000005339"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:3725054-3880726",
                            "ensembl_id": "ENSG00000005339"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-01-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Rubinstein-Taybi syndrome, 180849 (microcephaly)"
            ],
            "transcript": null,
            "entity_name": "CREBBP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
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            "gene_data": {
                "alias": [
                    "beta-catenin",
                    "armadillo"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2514",
                "gene_name": "catenin beta 1",
                "omim_gene": [
                    "116806"
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                "alias_name": null,
                "gene_symbol": "CTNNB1",
                "hgnc_symbol": "CTNNB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:41236328-41301587",
                            "ensembl_id": "ENSG00000168036"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:41194837-41260096",
                            "ensembl_id": "ENSG00000168036"
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                    }
                },
                "hgnc_date_symbol_changed": "1993-07-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "primary microcephaly",
                "Mental retardation, autosomal dominant 19, 615075"
            ],
            "transcript": null,
            "entity_name": "CTNNB1",
            "entity_type": "gene",
            "publications": [
                "25326669",
                "26968164"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "CHLR1",
                    "KRG2",
                    "CHL1",
                    "ChlR1",
                    "WABS"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2736",
                "gene_name": "DEAD/H-box helicase 11",
                "omim_gene": [
                    "601150"
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                "alias_name": [
                    "CHL1-like helicase homolog (S. cerevisiae)"
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                "gene_symbol": "DDX11",
                "hgnc_symbol": "DDX11",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:31226779-31257725",
                            "ensembl_id": "ENSG00000013573"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:31073845-31104791",
                            "ensembl_id": "ENSG00000013573"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-12-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Warsaw breakage syndrome   613398"
            ],
            "transcript": null,
            "entity_name": "DDX11",
            "entity_type": "gene",
            "publications": [
                "23033317",
                "20137776",
                "25701697"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2860",
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                "omim_gene": [
                    "602858"
                ],
                "alias_name": null,
                "gene_symbol": "DHCR7",
                "hgnc_symbol": "DHCR7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:71139239-71163914",
                            "ensembl_id": "ENSG00000172893"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:71428193-71452868",
                            "ensembl_id": "ENSG00000172893"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Smith-Lemli-Opitz syndrome   270400"
            ],
            "transcript": null,
            "entity_name": "DHCR7",
            "entity_type": "gene",
            "publications": [
                "20301322"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "gene_data": {
                "alias": [
                    "hDIA1",
                    "LFHL1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2876",
                "gene_name": "diaphanous related formin 1",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "DIAPH1",
                "hgnc_symbol": "DIAPH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "5:140894583-140998622",
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                            "location": "5:141515016-141619055",
                            "ensembl_id": "ENSG00000131504"
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                "hgnc_date_symbol_changed": "1998-03-17"
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            "penetrance": "Complete",
            "phenotypes": [
                "microcephaly, blindness and early onset seizures",
                "severe visual impairment, intellectual disability, and short stature",
                "Seizures, cortical blindness, microcephaly syndrome, 616632"
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            "transcript": null,
            "entity_name": "DIAPH1",
            "entity_type": "gene",
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                "PMID: 24781755 - a family study identify a homozygous nonsense alteration as the cause of microcephaly (MCP), severe visual impairment, intellectual disability, and short stature",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "gene_data": {
                "alias": [
                    "B17",
                    "C2TA",
                    "DKFZP434M035"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2993",
                "gene_name": "downstream neighbor of SON",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "DONSON",
                "hgnc_symbol": "DONSON",
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                    },
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                            "location": "21:33559542-33588708",
                            "ensembl_id": "ENSG00000159147"
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                "hgnc_date_symbol_changed": "2000-02-18"
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            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, short stature, and limb abnormalities 617604",
                "Microcephaly-micromelia syndrome\t251230"
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            "transcript": null,
            "entity_name": "DONSON",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "deletions"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": {
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                    "DPL1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3010",
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                "omim_gene": [
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                "hgnc_symbol": "DPP6",
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                "ensembl_genes": {
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                            "location": "7:153584182-154685995",
                            "ensembl_id": "ENSG00000130226"
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                    },
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                            "location": "7:153887097-154894285",
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            "penetrance": "Complete",
            "phenotypes": [
                "MCPH",
                "primary microcephaly",
                "autosomal dominant microcephaly and mental retardation",
                "Mental retardation, autosomal dominant 33, 616311"
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            "transcript": null,
            "entity_name": "DPP6",
            "entity_type": "gene",
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                "23832105"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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        },
        {
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                "deletions"
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3091",
                "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1A",
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                "hgnc_symbol": "DYRK1A",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "21:38738092-38889753",
                            "ensembl_id": "ENSG00000157540"
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                    },
                    "GRch38": {
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                            "location": "21:37365790-37517450",
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                "hgnc_date_symbol_changed": "1999-01-29"
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            "penetrance": "Complete",
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                "Mental retardation, autosomal dominant 7, 614104"
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            "entity_name": "DYRK1A",
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
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                "Radboud University Medical Center, Nijmegen",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30858",
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                            "location": "17:42927311-42977030",
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                            "location": "17:44849943-44899662",
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                "hgnc_date_symbol_changed": "2005-07-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mandibulofacial dysostosis, Guion-Almeida type   610536"
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            "entity_name": "EFTUD2",
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        {
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                "omim_gene": [
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                "alias_name": [
                    "xeroderma pigmentosum, complementation group F"
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                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group Q, 61527"
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            "transcript": null,
            "entity_name": "ERCC4",
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            "publications": [
                "23623386",
                "23623389"
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
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                "Expert Review Green"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3438",
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                "alias_name": [
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                "hgnc_symbol": "ERCC6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000225830"
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                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cockayne syndrome, type B, 133540 (Microcephaly)"
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            "transcript": null,
            "entity_name": "ERCC6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            ],
            "gene_data": {
                "alias": [
                    "CSA"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3439",
                "gene_name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
                "omim_gene": [
                    "609412"
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                "alias_name": null,
                "gene_symbol": "ERCC8",
                "hgnc_symbol": "ERCC8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:60169658-60240900",
                            "ensembl_id": "ENSG00000049167"
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                    "GRch38": {
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                            "location": "5:60873831-60945073",
                            "ensembl_id": "ENSG00000049167"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-02-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cockayne syndrome, type A, 216400 (Microcephaly)"
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            "transcript": null,
            "entity_name": "ERCC8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
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                "Expert Review Green"
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            "gene_data": {
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                    "FAA",
                    "FA-H",
                    "FAH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3582",
                "gene_name": "Fanconi anemia complementation group A",
                "omim_gene": [
                    "607139"
                ],
                "alias_name": null,
                "gene_symbol": "FANCA",
                "hgnc_symbol": "FANCA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:89803957-89883065",
                            "ensembl_id": "ENSG00000187741"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:89737549-89816657",
                            "ensembl_id": "ENSG00000187741"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-12-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group A, 227650 (Microcephaly)"
            ],
            "transcript": null,
            "entity_name": "FANCA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Other",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FAB",
                    "FLJ34064",
                    "FAAP95"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3583",
                "gene_name": "Fanconi anemia complementation group B",
                "omim_gene": [
                    "300515"
                ],
                "alias_name": null,
                "gene_symbol": "FANCB",
                "hgnc_symbol": "FANCB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:14861529-14891191",
                            "ensembl_id": "ENSG00000181544"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:14843407-14873069",
                            "ensembl_id": "ENSG00000181544"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group B, 300514"
            ],
            "transcript": null,
            "entity_name": "FANCB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FAC",
                    "FA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3584",
                "gene_name": "Fanconi anemia complementation group C",
                "omim_gene": [
                    "613899"
                ],
                "alias_name": null,
                "gene_symbol": "FANCC",
                "hgnc_symbol": "FANCC",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:97861336-98079991",
                            "ensembl_id": "ENSG00000158169"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:95099054-95426796",
                            "ensembl_id": "ENSG00000158169"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-11-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group C, 227645 (Microcephaly)"
            ],
            "transcript": null,
            "entity_name": "FANCC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FAD",
                    "FA-D2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3585",
                "gene_name": "Fanconi anemia complementation group D2",
                "omim_gene": [
                    "613984"
                ],
                "alias_name": null,
                "gene_symbol": "FANCD2",
                "hgnc_symbol": "FANCD2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:10068098-10143614",
                            "ensembl_id": "ENSG00000144554"
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                    },
                    "GRch38": {
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                            "location": "3:10026414-10101930",
                            "ensembl_id": "ENSG00000144554"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-10-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group D2, 227646 (Microcephaly)"
            ],
            "transcript": null,
            "entity_name": "FANCD2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FAE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3586",
                "gene_name": "Fanconi anemia complementation group E",
                "omim_gene": [
                    "613976"
                ],
                "alias_name": null,
                "gene_symbol": "FANCE",
                "hgnc_symbol": "FANCE",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:35420138-35434880",
                            "ensembl_id": "ENSG00000112039"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:35452361-35467103",
                            "ensembl_id": "ENSG00000112039"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-04-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group E, 600901 (Microcephaly)"
            ],
            "transcript": null,
            "entity_name": "FANCE",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FAF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3587",
                "gene_name": "Fanconi anemia complementation group F",
                "omim_gene": [
                    "613897"
                ],
                "alias_name": null,
                "gene_symbol": "FANCF",
                "hgnc_symbol": "FANCF",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:22644079-22647387",
                            "ensembl_id": "ENSG00000183161"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:22622519-22626787",
                            "ensembl_id": "ENSG00000183161"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group F, 603467"
            ],
            "transcript": null,
            "entity_name": "FANCF",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Other",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FAG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3588",
                "gene_name": "Fanconi anemia complementation group G",
                "omim_gene": [
                    "602956"
                ],
                "alias_name": [
                    "DNA repair protein XRCC9",
                    "X-ray repair, complementing defective, in Chinese hamster, 9",
                    "X-ray repair complementing defective repair in Chinese hamster cells 9"
                ],
                "gene_symbol": "FANCG",
                "hgnc_symbol": "FANCG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:35073832-35080013",
                            "ensembl_id": "ENSG00000221829"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:35073835-35080016",
                            "ensembl_id": "ENSG00000221829"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group G, 614082"
            ],
            "transcript": null,
            "entity_name": "FANCG",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Other",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10719"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25568",
                "gene_name": "Fanconi anemia complementation group I",
                "omim_gene": [
                    "611360"
                ],
                "alias_name": null,
                "gene_symbol": "FANCI",
                "hgnc_symbol": "FANCI",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "15:89787180-89860492",
                            "ensembl_id": "ENSG00000140525"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89243949-89317261",
                            "ensembl_id": "ENSG00000140525"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-05-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group I, 609053"
            ],
            "transcript": null,
            "entity_name": "FANCI",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Other",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10335",
                    "FAAP43",
                    "Pog"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20748",
                "gene_name": "Fanconi anemia complementation group L",
                "omim_gene": [
                    "608111"
                ],
                "alias_name": null,
                "gene_symbol": "FANCL",
                "hgnc_symbol": "FANCL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "2:58386378-58468507",
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                    },
                    "GRch38": {
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                            "location": "2:58159243-58241372",
                            "ensembl_id": "ENSG00000115392"
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                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group L, 614083"
            ],
            "transcript": null,
            "entity_name": "FANCL",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "Gem"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17493",
                "gene_name": "geminin, DNA replication inhibitor",
                "omim_gene": [
                    "602842"
                ],
                "alias_name": null,
                "gene_symbol": "GMNN",
                "hgnc_symbol": "GMNN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "6:24775159-24786327",
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                    },
                    "GRch38": {
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                            "location": "6:24774931-24786099",
                            "ensembl_id": "ENSG00000112312"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-08-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "Meier-Gorlin syndrome 6, 616835",
                "MGORS6",
                "primordial dwarfism"
            ],
            "transcript": null,
            "entity_name": "GMNN",
            "entity_type": "gene",
            "publications": [
                "26637980"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "RPD3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13315",
                "gene_name": "histone deacetylase 8",
                "omim_gene": [
                    "300269"
                ],
                "alias_name": null,
                "gene_symbol": "HDAC8",
                "hgnc_symbol": "HDAC8",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:71549366-71792953",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:72329516-72573103",
                            "ensembl_id": "ENSG00000147099"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-09-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cornelia de Lange syndrome 5, 300882 (includes Small head circumference)"
            ],
            "transcript": null,
            "entity_name": "HDAC8",
            "entity_type": "gene",
            "publications": [
                "24403048"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "ILRS",
                    "IARS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5330",
                "gene_name": "isoleucyl-tRNA synthetase",
                "omim_gene": [
                    "600709"
                ],
                "alias_name": [
                    "isoleucine tRNA ligase 1, cytoplasmic"
                ],
                "gene_symbol": "IARS",
                "hgnc_symbol": "IARS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:94972489-95056038",
                            "ensembl_id": "ENSG00000196305"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:92210207-92293756",
                            "ensembl_id": "ENSG00000196305"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-07-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093",
                "Microcephaly"
            ],
            "transcript": null,
            "entity_name": "IARS",
            "entity_type": "gene",
            "publications": [
                "27426735"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18550",
                "gene_name": "immediate early response 3 interacting protein 1",
                "omim_gene": [
                    "609382"
                ],
                "alias_name": null,
                "gene_symbol": "IER3IP1",
                "hgnc_symbol": "IER3IP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "18:44681413-44702745",
                            "ensembl_id": "ENSG00000134049"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "18:47152834-47176374",
                            "ensembl_id": "ENSG00000134049"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-01-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, epilepsy, and diabetes syndrome, 614231",
                "Microcephaly (-3 to -9 SD)"
            ],
            "transcript": null,
            "entity_name": "IER3IP1",
            "entity_type": "gene",
            "publications": [
                "24138066",
                "22991235"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
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                "Expert list",
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            ],
            "gene_data": {
                "alias": [
                    "IGF1A",
                    "IGFI",
                    "IGF-I"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5464",
                "gene_name": "insulin like growth factor 1",
                "omim_gene": [
                    "147440"
                ],
                "alias_name": [
                    "somatomedin C"
                ],
                "gene_symbol": "IGF1",
                "hgnc_symbol": "IGF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:102789645-102874423",
                            "ensembl_id": "ENSG00000017427"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:102395867-102480645",
                            "ensembl_id": "ENSG00000017427"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747",
                "MPD",
                "microcephalic primordial dwarfism"
            ],
            "transcript": null,
            "entity_name": "IGF1",
            "entity_type": "gene",
            "publications": [
                "8857020"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "JTK13",
                    "CD221",
                    "IGFIR",
                    "MGC18216",
                    "IGFR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5465",
                "gene_name": "insulin like growth factor 1 receptor",
                "omim_gene": [
                    "147370"
                ],
                "alias_name": null,
                "gene_symbol": "IGF1R",
                "hgnc_symbol": "IGF1R",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:99192200-99507759",
                            "ensembl_id": "ENSG00000140443"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:98648971-98964530",
                            "ensembl_id": "ENSG00000140443"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-07-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Insulin-like growth factor I, resistance to 270450"
            ],
            "transcript": null,
            "entity_name": "IGF1R",
            "entity_type": "gene",
            "publications": [
                "14657428",
                "25040157"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Other",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "Eg5",
                    "HKSP",
                    "TRIP5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6388",
                "gene_name": "kinesin family member 11",
                "omim_gene": [
                    "148760"
                ],
                "alias_name": null,
                "gene_symbol": "KIF11",
                "hgnc_symbol": "KIF11",
                "hgnc_release": "2017-11-03T00:00:00",
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                            "location": "10:94353043-94415150",
                            "ensembl_id": "ENSG00000138160"
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                    }
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            },
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                "Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy, 152950"
            ],
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            "publications": [
                "22284827"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
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                    "TTC20",
                    "KBP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23419",
                "gene_name": "KIF1 binding protein",
                "omim_gene": [
                    "609367"
                ],
                "alias_name": [
                    "kinesin binding protein"
                ],
                "gene_symbol": "KIF1BP",
                "hgnc_symbol": "KIF1BP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:70748487-70776738",
                            "ensembl_id": "ENSG00000198954"
                        }
                    },
                    "GRch38": {
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                            "location": "10:68988721-69043544",
                            "ensembl_id": "ENSG00000198954"
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                    }
                },
                "hgnc_date_symbol_changed": "2015-03-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)"
            ],
            "transcript": null,
            "entity_name": "KIF1BP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
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                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
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            "gene_data": {
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                    "AF15Q14",
                    "CT29",
                    "KIAA1570",
                    "hKNL-1",
                    "hSpc105",
                    "PPP1R55",
                    "Spc7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24054",
                "gene_name": "kinetochore scaffold 1",
                "omim_gene": [
                    "609173"
                ],
                "alias_name": [
                    "cancer/testis antigen 29",
                    "kinetochore null 1 homolog (C. elegans)",
                    "blinkin, bub-linking kinetochore protein",
                    "protein phosphatase 1, regulatory subunit 55"
                ],
                "gene_symbol": "KNL1",
                "hgnc_symbol": "KNL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "15:40886218-40956540",
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2016-06-13"
            },
            "penetrance": "Complete",
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                "MCPH",
                "primary microcephaly",
                "Primary Microcephaly, Recessive",
                "Microcephaly 4, primary, autosomal recessive, 604321",
                "Microcephaly 4, Primary, Autosomal Recessive"
            ],
            "transcript": null,
            "entity_name": "KNL1",
            "entity_type": "gene",
            "publications": [
                "26626498",
                "26621532",
                "22983954"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "HDCMA18P",
                    "PIP7S",
                    "DKFZP564K112"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24912",
                "gene_name": "La ribonucleoprotein domain family member 7",
                "omim_gene": [
                    "612026"
                ],
                "alias_name": [
                    "P-TEFb-interaction protein for 7SK stability"
                ],
                "gene_symbol": "LARP7",
                "hgnc_symbol": "LARP7",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:113558120-113578748",
                            "ensembl_id": "ENSG00000174720"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:112636964-112657592",
                            "ensembl_id": "ENSG00000174720"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-07-05"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Alazami syndrome, 615071 (Microcephaly and short stature)",
                "Primordial dwarfism"
            ],
            "transcript": null,
            "entity_name": "LARP7",
            "entity_type": "gene",
            "publications": [
                "26607181",
                "26374271"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6601",
                "gene_name": "DNA ligase 4",
                "omim_gene": [
                    "601837"
                ],
                "alias_name": [
                    "polydeoxyribonucleotide synthase [ATP] 4",
                    "polynucleotide ligase",
                    "sealase",
                    "DNA repair enzyme",
                    "DNA joinase"
                ],
                "gene_symbol": "LIG4",
                "hgnc_symbol": "LIG4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:108859787-108870716",
                            "ensembl_id": "ENSG00000174405"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "13:108207439-108218368",
                            "ensembl_id": "ENSG00000174405"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-08-10"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "LIG4 syndrome, 606593",
                "microcephaly"
            ],
            "transcript": null,
            "entity_name": "LIG4",
            "entity_type": "gene",
            "publications": [
                "11779494"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12847",
                    "BRIT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6954",
                "gene_name": "microcephalin 1",
                "omim_gene": [
                    "607117"
                ],
                "alias_name": [
                    "BRCT-repeat inhibitor of TERT expression 1"
                ],
                "gene_symbol": "MCPH1",
                "hgnc_symbol": "MCPH1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:6264113-6501144",
                            "ensembl_id": "ENSG00000147316"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "8:6406592-6648504",
                            "ensembl_id": "ENSG00000147316"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-02-11"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MCPH",
                "primary microcephaly",
                "Primary Microcephaly, Recessive",
                "Microcephaly 1, primary, autosomal recessive, 251200",
                "Microcephaly 1, Primary, Autosomal Recessive"
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            "transcript": null,
            "entity_name": "MCPH1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14490"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25897",
                "gene_name": "major facilitator superfamily domain containing 2A",
                "omim_gene": [
                    "614397"
                ],
                "alias_name": null,
                "gene_symbol": "MFSD2A",
                "hgnc_symbol": "MFSD2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:40420802-40435638",
                            "ensembl_id": "ENSG00000168389"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:39955112-39969968",
                            "ensembl_id": "ENSG00000168389"
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                },
                "hgnc_date_symbol_changed": "2009-09-08"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly 15, primary, autosomal recessive, 616486"
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            "transcript": null,
            "entity_name": "MFSD2A",
            "entity_type": "gene",
            "publications": [
                "12046007"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "DESP4",
                    "ERG25"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10545",
                "gene_name": "methylsterol monooxygenase 1",
                "omim_gene": [
                    "607545"
                ],
                "alias_name": null,
                "gene_symbol": "MSMO1",
                "hgnc_symbol": "MSMO1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:166248775-166264312",
                            "ensembl_id": "ENSG00000052802"
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                    "GRch38": {
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                            "location": "4:165327623-165343160",
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                "hgnc_date_symbol_changed": "2011-09-01"
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            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834"
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            "transcript": null,
            "entity_name": "MSMO1",
            "entity_type": "gene",
            "publications": [
                "21285510: In a 15 year old girl with MCCPD (OMIM:616834), He et al., identified compound heterozygosity for 2 mutations in MSMO1 (c.519T-A, H173Q and c.731A-G, Y244C). In a 5-year-old Hispanic girl with MCCPD (OMIM:616834), He et al., identified homozygosity for a c.343G-A transition (G115R). Her parents were heterozygous for the mutation."
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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                "Expert Review Green",
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            ],
            "gene_data": {
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                    "N-myc",
                    "MYCNOT"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7559",
                "gene_name": "MYCN proto-oncogene, bHLH transcription factor",
                "omim_gene": [
                    "164840"
                ],
                "alias_name": null,
                "gene_symbol": "MYCN",
                "hgnc_symbol": "MYCN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:16080686-16087129",
                            "ensembl_id": "ENSG00000134323"
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                    },
                    "GRch38": {
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                            "location": "2:15940564-15947007",
                            "ensembl_id": "ENSG00000134323"
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                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Feingold syndrome 1, 164280 (Microcephaly)"
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            "entity_name": "MYCN",
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            "gene_data": {
                "alias": [
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                    "AT-V2",
                    "AT-V1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7652",
                "gene_name": "nibrin",
                "omim_gene": [
                    "602667"
                ],
                "alias_name": null,
                "gene_symbol": "NBN",
                "hgnc_symbol": "NBN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "8:90945564-91015456",
                            "ensembl_id": "ENSG00000104320"
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                    },
                    "GRch38": {
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                            "location": "8:89933336-90003228",
                            "ensembl_id": "ENSG00000104320"
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                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Nijmegen breakage syndrome   251260"
            ],
            "transcript": null,
            "entity_name": "NBN",
            "entity_type": "gene",
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                "9590180",
                "20301355"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Expert list"
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            "gene_data": {
                "alias": [
                    "nudE",
                    "FLJ20101",
                    "NDE"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17619",
                "gene_name": "nudE neurodevelopment protein 1",
                "omim_gene": [
                    "609449"
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                "alias_name": null,
                "gene_symbol": "NDE1",
                "hgnc_symbol": "NDE1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:15737124-15820210",
                            "ensembl_id": "ENSG00000072864"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:15643267-15726353",
                            "ensembl_id": "ENSG00000072864"
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                "hgnc_date_symbol_changed": "2003-04-10"
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            "penetrance": "Complete",
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                "MCPH",
                "primary microcephaly",
                "Lissencephaly 4 (with microcephaly), 614019",
                "?Microhydranencephaly, 605013"
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            "transcript": null,
            "entity_name": "NDE1",
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            "publications": [
                "21529752"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
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                    "XLF",
                    "FLJ12610"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25737",
                "gene_name": "non-homologous end joining factor 1",
                "omim_gene": [
                    "611290"
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                "alias_name": [
                    "XRCC4-like factor"
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                "gene_symbol": "NHEJ1",
                "hgnc_symbol": "NHEJ1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:219940039-220025587",
                            "ensembl_id": "ENSG00000187736"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:219075317-219160865",
                            "ensembl_id": "ENSG00000187736"
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                "hgnc_date_symbol_changed": "2006-03-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation   611291"
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            "transcript": null,
            "entity_name": "NHEJ1",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "IDN3",
                    "DKFZp434L1319",
                    "FLJ11203",
                    "FLJ12597",
                    "FLJ13354",
                    "FLJ13648",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28862",
                "gene_name": "NIPBL, cohesin loading factor",
                "omim_gene": [
                    "608667"
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                "gene_symbol": "NIPBL",
                "hgnc_symbol": "NIPBL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "5:36876861-37066515",
                            "ensembl_id": "ENSG00000164190"
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                    },
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                        "90": {
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                            "ensembl_id": "ENSG00000164190"
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                },
                "hgnc_date_symbol_changed": "2004-07-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cornelia de Lange syndrome 1, 122470 (includes microcephaly)"
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            "entity_name": "NIPBL",
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                "15146185",
                "27164022"
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Green",
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                "Illumina TruGenome Clinical Sequencing Services",
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            "gene_data": {
                "alias": [
                    "HSORC1",
                    "PARC1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8487",
                "gene_name": "origin recognition complex subunit 1",
                "omim_gene": [
                    "601902"
                ],
                "alias_name": [
                    "origin recognition complex, subunit 1, S. cerevisiae, homolog-like",
                    "origin recognition complex 1",
                    "replication control protein 1"
                ],
                "gene_symbol": "ORC1",
                "hgnc_symbol": "ORC1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:52838501-52870131",
                            "ensembl_id": "ENSG00000085840"
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                    },
                    "GRch38": {
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                            "location": "1:52372829-52404459",
                            "ensembl_id": "ENSG00000085840"
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                },
                "hgnc_date_symbol_changed": "2010-10-12"
            },
            "penetrance": "Complete",
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                "MPD",
                "microcephalic primordial dwarfism",
                "Meier-Gorlin syndrome 1, 224690"
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            "entity_name": "ORC1",
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            "publications": [
                "21358633"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
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                "Expert list"
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                "hgnc_id": "HGNC:8490",
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                "hgnc_symbol": "ORC4",
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "Meier-Gorlin syndrome 2, 613800"
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            "entity_type": "gene",
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
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                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
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                "Expert list"
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            "gene_data": {
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                "hgnc_symbol": "ORC6",
                "hgnc_release": "2017-11-03T00:00:00",
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "Meier-Gorlin syndrome 3, 613803"
            ],
            "transcript": null,
            "entity_name": "ORC6",
            "entity_type": "gene",
            "publications": [
                "21358632"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
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                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
            ],
            "gene_data": {
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                    "KIAA0402",
                    "PCN",
                    "PCNTB",
                    "SCKL4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16068",
                "gene_name": "pericentrin",
                "omim_gene": [
                    "605925"
                ],
                "alias_name": [
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                    "Seckel syndrome 4"
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                "gene_symbol": "PCNT",
                "hgnc_symbol": "PCNT",
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "Microcephalic Osteodysplastic Primordial Dwarfism",
                "Microcephalic osteodysplastic primordial dwarfism, type II, 210720"
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            "transcript": null,
            "entity_name": "PCNT",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8806",
                "gene_name": "pyruvate dehydrogenase E1 alpha 1 subunit",
                "omim_gene": [
                    "300502"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "PDHA1",
                "hgnc_symbol": "PDHA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:19362011-19379823",
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                    },
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                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, seizures, very variable phenotype"
            ],
            "transcript": null,
            "entity_name": "PDHA1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "Sak"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11397",
                "gene_name": "polo like kinase 4",
                "omim_gene": [
                    "605031"
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                "alias_name": null,
                "gene_symbol": "PLK4",
                "hgnc_symbol": "PLK4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                    },
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                },
                "hgnc_date_symbol_changed": "2004-01-28"
            },
            "penetrance": "Complete",
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                "MCPH",
                "primary microcephaly",
                "Microcephaly and chorioretinopathy, autosomal recessive, 2",
                "MCCRP2",
                "Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171"
            ],
            "transcript": null,
            "entity_name": "PLK4",
            "entity_type": "gene",
            "publications": [
                "25344692"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9154",
                "gene_name": "polynucleotide kinase 3'-phosphatase",
                "omim_gene": [
                    "605610"
                ],
                "alias_name": null,
                "gene_symbol": "PNKP",
                "hgnc_symbol": "PNKP",
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                "ensembl_genes": {
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                    },
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                },
                "hgnc_date_symbol_changed": "1999-12-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, seizures, and developmental delay, 613402"
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            "transcript": null,
            "entity_name": "PNKP",
            "entity_type": "gene",
            "publications": [
                "20118933"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
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                "Expert Review Green",
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                "Expert list"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24488",
                "gene_name": "POC1 centriolar protein A",
                "omim_gene": [
                    "614783"
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                "alias_name": null,
                "gene_symbol": "POC1A",
                "hgnc_symbol": "POC1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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            "penetrance": "Complete",
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                "primary microcephaly",
                "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813",
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                "primordial dwarfism",
                "SOFT syndrome"
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            "transcript": null,
            "entity_name": "POC1A",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9330",
                "gene_name": "polyglutamine binding protein 1",
                "omim_gene": [
                    "300463"
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                "alias_name": null,
                "gene_symbol": "PQBP1",
                "hgnc_symbol": "PQBP1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:48755195-48760420",
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                    },
                    "GRch38": {
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                            "location": "X:48897912-48903143",
                            "ensembl_id": "ENSG00000102103"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-01-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Renpenning syndrome   309500"
            ],
            "transcript": null,
            "entity_name": "PQBP1",
            "entity_type": "gene",
            "publications": [
                "14634649"
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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": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "DRES-17",
                    "HTCD37",
                    "H-PRUNE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13420",
                "gene_name": "prune exopolyphosphatase 1",
                "omim_gene": [
                    "617413"
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                "alias_name": null,
                "gene_symbol": "PRUNE1",
                "hgnc_symbol": "PRUNE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                    },
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                "hgnc_date_symbol_changed": "2016-06-06"
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            "penetrance": "Complete",
            "phenotypes": [
                "microcephaly, spasticity, developmental delay"
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            "transcript": null,
            "entity_name": "PRUNE1",
            "entity_type": "gene",
            "publications": [
                "Brain 2017 awx014. doi: 10.1093/brain/awx014"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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            ],
            "gene_data": {
                "alias": [
                    "KIAA0078",
                    "hHR21",
                    "SCC1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9811",
                "gene_name": "RAD21 cohesin complex component",
                "omim_gene": [
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                "alias_name": [
                    "sister chromatid cohesion 1",
                    "kleisin"
                ],
                "gene_symbol": "RAD21",
                "hgnc_symbol": "RAD21",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "8:117858174-117887105",
                            "ensembl_id": "ENSG00000164754"
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                    },
                    "GRch38": {
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                            "location": "8:116845935-116874866",
                            "ensembl_id": "ENSG00000164754"
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                },
                "hgnc_date_symbol_changed": "1996-06-12"
            },
            "penetrance": "Incomplete",
            "phenotypes": [
                "Cornelia de Lange syndrome 4, 614701 (includes microcephaly)"
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            "transcript": null,
            "entity_name": "RAD21",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
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                "Expert list"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9891",
                "gene_name": "RB binding protein 8, endonuclease",
                "omim_gene": [
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                "alias_name": [
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                "hgnc_symbol": "RBBP8",
                "hgnc_release": "2017-11-03T00:00:00",
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                "Jawad syndrome, 251255 (‌includes congenital microcephaly)"
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            "transcript": null,
            "entity_name": "RBBP8",
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            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list",
                "Radboud University Medical Center, Nijmegen",
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                "biotype": "snRNA",
                "hgnc_id": "HGNC:34016",
                "gene_name": "RNA, U4atac small nuclear (U12-dependent splicing)",
                "omim_gene": [
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                "gene_symbol": "RNU4ATAC",
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                "Microcephalic osteodysplastic primordial dwarfism, type I, 210710",
                "MPD",
                "microcephalic primordial dwarfism"
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            "transcript": null,
            "entity_name": "RNU4ATAC",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
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            "evidence": [
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                "Expert Review Green",
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10298",
                "gene_name": "ribosomal protein L10",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "RPL10",
                "hgnc_symbol": "RPL10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                "hgnc_date_symbol_changed": "1998-07-23"
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            "penetrance": "Complete",
            "phenotypes": [
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            "transcript": null,
            "entity_name": "RPL10",
            "entity_type": "gene",
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                "25316788"
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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": [
                "NHS GMS",
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                "Expert list"
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18654",
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                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "RTTN",
                "hgnc_symbol": "RTTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000176225"
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            "penetrance": "Complete",
            "phenotypes": [
                "MCPH",
                "primary microcephaly",
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                "Microcephaly,short stature,and polymicrogyria with seizures,614833",
                "Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833"
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            "transcript": null,
            "entity_name": "RTTN",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14409",
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                "omim_gene": [
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                "gene_symbol": "SLC25A19",
                "hgnc_symbol": "SLC25A19",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "17:73269073-73285591",
                            "ensembl_id": "ENSG00000125454"
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                    },
                    "GRch38": {
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                            "location": "17:75272981-75289510",
                            "ensembl_id": "ENSG00000125454"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-09-27"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Amish Lethal Microcephaly",
                "Microcephaly, Amish type, 607196",
                "Amish Lethal Microcephaly, 216535"
            ],
            "transcript": null,
            "entity_name": "SLC25A19",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
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                    "KIAA0267"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11079",
                "gene_name": "solute carrier family 9 member A6",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "SLC9A6",
                "hgnc_symbol": "SLC9A6",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:135067598-135129423",
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                    },
                    "GRch38": {
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                            "location": "X:135973841-136047269",
                            "ensembl_id": "ENSG00000198689"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-07-30"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Angelman-like Syndrome",
                "microcephaly, seizures, ataxia, and absent speech",
                "Mental retardation, X-linked syndromic, Christianson type, 300243",
                "Microcephaly"
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            "transcript": null,
            "entity_name": "SLC9A6",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
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                    "KIAA1987",
                    "FANCP"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23845",
                "gene_name": "SLX4 structure-specific endonuclease subunit",
                "omim_gene": [
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                "alias_name": [
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                ],
                "gene_symbol": "SLX4",
                "hgnc_symbol": "SLX4",
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                "ensembl_genes": {
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                            "ensembl_id": "ENSG00000188827"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2010-09-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group P, 613951 (Microcephaly)"
            ],
            "transcript": null,
            "entity_name": "SLX4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "gene-duplication"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
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                    "KIAA0178",
                    "SB1.8",
                    "Smcb"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11111",
                "gene_name": "structural maintenance of chromosomes 1A",
                "omim_gene": [
                    "300040"
                ],
                "alias_name": null,
                "gene_symbol": "SMC1A",
                "hgnc_symbol": "SMC1A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "X:53401070-53449677",
                            "ensembl_id": "ENSG00000072501"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "X:53374149-53422728",
                            "ensembl_id": "ENSG00000072501"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-07-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cornelia de Lange syndrome 2, 300590 (includes microcephaly)"
            ],
            "transcript": null,
            "entity_name": "SMC1A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
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                    "BAM",
                    "SMC3L1",
                    "bamacan"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2468",
                "gene_name": "structural maintenance of chromosomes 3",
                "omim_gene": [
                    "606062"
                ],
                "alias_name": [
                    "bamacan proteoglycan"
                ],
                "gene_symbol": "SMC3",
                "hgnc_symbol": "SMC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:112327449-112364394",
                            "ensembl_id": "ENSG00000108055"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:110567691-110604636",
                            "ensembl_id": "ENSG00000108055"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-07-06"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cornelia de Lange syndrome 3, 610759 (includes microcephaly)"
            ],
            "transcript": null,
            "entity_name": "SMC3",
            "entity_type": "gene",
            "publications": [
                "20301283"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "AMSH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16950",
                "gene_name": "STAM binding protein",
                "omim_gene": [
                    "606247"
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                "alias_name": null,
                "gene_symbol": "STAMBP",
                "hgnc_symbol": "STAMBP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:74056086-74100786",
                            "ensembl_id": "ENSG00000124356"
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                    },
                    "GRch38": {
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                            "location": "2:73828916-73873659",
                            "ensembl_id": "ENSG00000124356"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly-capillary malformation syndrome   614261"
            ],
            "transcript": null,
            "entity_name": "STAMBP",
            "entity_type": "gene",
            "publications": [
                "23542699"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
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                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10879",
                "gene_name": "STIL, centriolar assembly protein",
                "omim_gene": [
                    "181590"
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                "alias_name": null,
                "gene_symbol": "STIL",
                "hgnc_symbol": "STIL",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "1:47715811-47779819",
                            "ensembl_id": "ENSG00000123473"
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                    },
                    "GRch38": {
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                            "location": "1:47250139-47314147",
                            "ensembl_id": "ENSG00000123473"
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                },
                "hgnc_date_symbol_changed": "2005-11-29"
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            "penetrance": "Complete",
            "phenotypes": [
                "MCPH",
                "primary microcephaly",
                "Primary Microcephaly, Recessive",
                "Microcephaly 7, primary, autosomal recessive, 612703",
                "Microcephaly 7, Primary, Autosomal Recessive"
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            "transcript": null,
            "entity_name": "STIL",
            "entity_type": "gene",
            "publications": [
                "25218063"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
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            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11992",
                "gene_name": "DNA topoisomerase III alpha",
                "omim_gene": [
                    "601243"
                ],
                "alias_name": [
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                ],
                "gene_symbol": "TOP3A",
                "hgnc_symbol": "TOP3A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "17:18174742-18218321",
                            "ensembl_id": "ENSG00000177302"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:18271428-18315007",
                            "ensembl_id": "ENSG00000177302"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-03-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Bloom Syndrome-like Disorder"
            ],
            "transcript": null,
            "entity_name": "TOP3A",
            "entity_type": "gene",
            "publications": [
                "30057030"
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Expert list"
            ],
            "gene_data": {
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                    "TRIP",
                    "RNF206"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30764",
                "gene_name": "TRAF interacting protein",
                "omim_gene": [
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                "alias_name": [
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                ],
                "gene_symbol": "TRAIP",
                "hgnc_symbol": "TRAIP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "3:49866034-49894007",
                            "ensembl_id": "ENSG00000183763"
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                            "location": "3:49828599-49856574",
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                "hgnc_date_symbol_changed": "2006-01-09"
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            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "Seckel syndrome 9, 616777",
                "Microcephaly"
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            "transcript": null,
            "entity_name": "TRAIP",
            "entity_type": "gene",
            "publications": [
                "26595769"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "MGC27034",
                    "TRM10"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28403",
                "gene_name": "tRNA methyltransferase 10A",
                "omim_gene": [
                    "616013"
                ],
                "alias_name": null,
                "gene_symbol": "TRMT10A",
                "hgnc_symbol": "TRMT10A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "4:100467866-100485189",
                            "ensembl_id": "ENSG00000145331"
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                    },
                    "GRch38": {
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            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, short stature, and impaired glucose metabolism 1",
                "616033",
                "MSSGM1",
                "primary microcephaly"
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            "transcript": null,
            "entity_name": "TRMT10A",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
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            ],
            "gene_data": {
                "alias": [
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                    "FLJ14797"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16691",
                "gene_name": "tubulin gamma complex associated protein 4",
                "omim_gene": [
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                "alias_name": null,
                "gene_symbol": "TUBGCP4",
                "hgnc_symbol": "TUBGCP4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "15:43661419-43699293",
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                    },
                    "GRch38": {
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                            "location": "15:43369221-43409771",
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            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335"
            ],
            "transcript": null,
            "entity_name": "TUBGCP4",
            "entity_type": "gene",
            "publications": [
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "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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                "Expert list"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18127",
                "gene_name": "tubulin gamma complex associated protein 6",
                "omim_gene": [
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                "hgnc_symbol": "TUBGCP6",
                "hgnc_release": "2017-11-03T00:00:00",
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                "Microcephaly and chorioretinopathy with or without mental retardation, 251270"
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        },
        {
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                "Expert list"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23230",
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            "phenotypes": [
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            "entity_name": "UBA5",
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        },
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                "Expert list"
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            "gene_data": {
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26941",
                "gene_name": "ubiquitin-fold modifier conjugating enzyme 1",
                "omim_gene": [
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                "hgnc_symbol": "UFC1",
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                "ensembl_genes": {
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            "phenotypes": [
                "Neurodevelopmental disorder with spasticity and poor growth, 618076",
                "microcephaly"
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            "entity_name": "UFC1",
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            "mode_of_pathogenicity": null
        },
        {
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            "gene_data": {
                "alias": [
                    "bA131P10.1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20597",
                "gene_name": "ubiquitin fold modifier 1",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP434J046",
                    "FLJ33298"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24502",
                "gene_name": "WD repeat domain 62",
                "omim_gene": [
                    "613583"
                ],
                "alias_name": null,
                "gene_symbol": "WDR62",
                "hgnc_symbol": "WDR62",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:36545783-36596008",
                            "ensembl_id": "ENSG00000075702"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:36054881-36105106",
                            "ensembl_id": "ENSG00000075702"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-09"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MCPH",
                "primary microcephaly",
                "Primary Microcephaly 2 With or Without Cortical Malformations",
                "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317",
                "microcephaly cortical malformations and mental retardation (MCMMR), 604317",
                "Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations"
            ],
            "transcript": null,
            "entity_name": "WDR62",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14888",
                    "HSPC264"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25928",
                "gene_name": "WD repeat domain 73",
                "omim_gene": [
                    "616144"
                ],
                "alias_name": null,
                "gene_symbol": "WDR73",
                "hgnc_symbol": "WDR73",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:85185999-85197574",
                            "ensembl_id": "ENSG00000177082"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:84639281-84654343",
                            "ensembl_id": "ENSG00000177082"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Galloway-Mowat syndrome,  251300"
            ],
            "transcript": null,
            "entity_name": "WDR73",
            "entity_type": "gene",
            "publications": [
                "PMID:18019379 report on a 31-year-old pregnant woman with abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation."
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Other",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12831",
                "gene_name": "X-ray repair cross complementing 4",
                "omim_gene": [
                    "194363"
                ],
                "alias_name": [
                    "X-ray repair, complementing defective, repair in Chinese hamster",
                    "DNA repair protein XRCC4"
                ],
                "gene_symbol": "XRCC4",
                "hgnc_symbol": "XRCC4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:82373317-82649606",
                            "ensembl_id": "ENSG00000152422"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:83077498-83353787",
                            "ensembl_id": "ENSG00000152422"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-10-16"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism",
                "Short stature, microcephaly, and endocrine dysfunction, 616541"
            ],
            "transcript": null,
            "entity_name": "XRCC4",
            "entity_type": "gene",
            "publications": [
                "24389050"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0569",
                    "SIP-1",
                    "SIP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14881",
                "gene_name": "zinc finger E-box binding homeobox 2",
                "omim_gene": [
                    "605802"
                ],
                "alias_name": [
                    "SMAD interacting protein 1"
                ],
                "gene_symbol": "ZEB2",
                "hgnc_symbol": "ZEB2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:145141648-145282147",
                            "ensembl_id": "ENSG00000169554"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:144364364-144524583",
                            "ensembl_id": "ENSG00000169554"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mowat-Wilson syndrome   235730"
            ],
            "transcript": null,
            "entity_name": "ZEB2",
            "entity_type": "gene",
            "publications": [
                "20301585"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10392",
                    "APE",
                    "GIV",
                    "HkRP1",
                    "GRDN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25523",
                "gene_name": "coiled-coil domain containing 88A",
                "omim_gene": [
                    "609736"
                ],
                "alias_name": [
                    "Galpha-interacting vesicle-associated protein",
                    "Akt-phosphorylation enhancer",
                    "girdin",
                    "girders of actin filaments"
                ],
                "gene_symbol": "CCDC88A",
                "hgnc_symbol": "CCDC88A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:55514978-55647057",
                            "ensembl_id": "ENSG00000115355"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:55287842-55419921",
                            "ensembl_id": "ENSG00000115355"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-31"
            },
            "penetrance": null,
            "phenotypes": [
                "PEHO syndrome-like, 617507",
                "microcephaly"
            ],
            "transcript": null,
            "entity_name": "CCDC88A",
            "entity_type": "gene",
            "publications": [
                "26917597",
                "30392057"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "DPCK",
                    "NBP",
                    "CoASY",
                    "PPAT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29932",
                "gene_name": "Coenzyme A synthase",
                "omim_gene": [
                    "609855"
                ],
                "alias_name": null,
                "gene_symbol": "COASY",
                "hgnc_symbol": "COASY",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:40713485-40718295",
                            "ensembl_id": "ENSG00000068120"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:42561467-42566277",
                            "ensembl_id": "ENSG00000068120"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis"
            ],
            "transcript": null,
            "entity_name": "COASY",
            "entity_type": "gene",
            "publications": [
                "30089828",
                "24360804"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "HSPC139"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14312",
                "gene_name": "CXXC repeat containing interactor of PDZ3 domain",
                "omim_gene": [
                    "604594"
                ],
                "alias_name": null,
                "gene_symbol": "CRIPT",
                "hgnc_symbol": "CRIPT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:46843555-46852881",
                            "ensembl_id": "ENSG00000119878"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:46616416-46625742",
                            "ensembl_id": "ENSG00000119878"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-06-22"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Short stature with microcephaly and distinctive facies, 615789"
            ],
            "transcript": null,
            "entity_name": "CRIPT",
            "entity_type": "gene",
            "publications": [
                "27250922 Leduc et al., 2016 describe a female with biallelic mutations in CRIPT, presenting with short stature, dysmorphic features, microcephaly and hypopigmented macules. They detect a c.8G>A (p.C3Y) missense variant inherited from the mother in exon 1, and a 1,331?bp deletion encompassing exon 1, inherited from the father",
                "24389050 Shaheen et al., 2014 report 2 cases: they examined cases with Short stature with microcephaly and distinctive facies (OMIM:615789). In a 3 year old boy they identified homozygosity for a 2bp insertion (c.133_134insGG) predicted to cause premature termination (Ala45GlyfsTer87). They also analyzed DNA from the first-cousin parents of a deceased affected male Saudi Arabian infant. The patient was presumed homozygous for a loss of function variant based on the heterozygous status of the parents."
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "ATLD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7230",
                "gene_name": "MRE11 homolog, double strand break repair nuclease",
                "omim_gene": [
                    "600814"
                ],
                "alias_name": [
                    "AT-like disease"
                ],
                "gene_symbol": "MRE11",
                "hgnc_symbol": "MRE11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:94152895-94227074",
                            "ensembl_id": "ENSG00000020922"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:94415578-94493908",
                            "ensembl_id": "ENSG00000020922"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-09-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Nijmegen breakage syndrome-like severe microcephaly"
            ],
            "transcript": null,
            "entity_name": "MRE11",
            "entity_type": "gene",
            "publications": [
                "21227757"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "FLJ21816",
                    "FANCN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26144",
                "gene_name": "partner and localizer of BRCA2",
                "omim_gene": [
                    "610355"
                ],
                "alias_name": [
                    "Fanconi anemia, complementation group N"
                ],
                "gene_symbol": "PALB2",
                "hgnc_symbol": "PALB2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:23614488-23652631",
                            "ensembl_id": "ENSG00000083093"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:23603160-23641310",
                            "ensembl_id": "ENSG00000083093"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-01-15"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group N, 610832 (microcephaly)"
            ],
            "transcript": null,
            "entity_name": "PALB2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
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                "NHS GMS",
                "Expert Review Amber",
                "UKGTN",
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            ],
            "gene_data": {
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                "biotype": "protein_coding",
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                "omim_gene": [
                    "603727"
                ],
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                    "glutamine tRNA ligase"
                ],
                "gene_symbol": "QARS",
                "hgnc_symbol": "QARS",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49133365-49142553",
                            "ensembl_id": "ENSG00000172053"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49095932-49105135",
                            "ensembl_id": "ENSG00000172053"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-13"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy   615760"
            ],
            "transcript": null,
            "entity_name": "QARS",
            "entity_type": "gene",
            "publications": [
                "24656866"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "RAD51L2",
                    "FANCO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9820",
                "gene_name": "RAD51 paralog C",
                "omim_gene": [
                    "602774"
                ],
                "alias_name": null,
                "gene_symbol": "RAD51C",
                "hgnc_symbol": "RAD51C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:56769934-56811703",
                            "ensembl_id": "ENSG00000108384"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:58692573-58735611",
                            "ensembl_id": "ENSG00000108384"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-02-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Fanconi anemia, complementation group O, 613390"
            ],
            "transcript": null,
            "entity_name": "RAD51C",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "FLJ12888",
                    "BLAP75"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25764",
                "gene_name": "RecQ mediated genome instability 1",
                "omim_gene": [
                    "610404"
                ],
                "alias_name": [
                    "BLM-Associated Polypeptide, 75 kDa"
                ],
                "gene_symbol": "RMI1",
                "hgnc_symbol": "RMI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:86595626-86618985",
                            "ensembl_id": "ENSG00000178966"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:83980711-84004074",
                            "ensembl_id": "ENSG00000178966"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-06-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Bloom Syndrome-like Disorder"
            ],
            "transcript": null,
            "entity_name": "RMI1",
            "entity_type": "gene",
            "publications": [
                "30057030"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [
                "watchlist"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Other",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "TAFII18"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11546",
                "gene_name": "TATA-box binding protein associated factor 13",
                "omim_gene": [
                    "600774"
                ],
                "alias_name": null,
                "gene_symbol": "TAF13",
                "hgnc_symbol": "TAF13",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:109605108-109618624",
                            "ensembl_id": "ENSG00000197780"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:109062486-109076002",
                            "ensembl_id": "ENSG00000197780"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-12-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Mental retardation, autosomal recessive 60 \t617432"
            ],
            "transcript": null,
            "entity_name": "TAF13",
            "entity_type": "gene",
            "publications": [
                "28257693"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "TRM82",
                    "TRMT82"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12756",
                "gene_name": "WD repeat domain 4",
                "omim_gene": [
                    "605924"
                ],
                "alias_name": [
                    "TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "WDR4",
                "hgnc_symbol": "WDR4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:44263204-44299678",
                            "ensembl_id": "ENSG00000160193"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:42843094-42879568",
                            "ensembl_id": "ENSG00000160193"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-19"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "MPD",
                "microcephalic primordial dwarfism"
            ],
            "transcript": null,
            "entity_name": "WDR4",
            "entity_type": "gene",
            "publications": [
                "26416026",
                "29597095"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Other",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "bA465L10.2",
                    "NIF-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15807",
                "gene_name": "zinc finger protein 335",
                "omim_gene": [
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        },
        {
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            "confidence_level": "1",
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        },
        {
            "tags": [],
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        {
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            ],
            "transcript": null,
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        },
        {
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                "Expert list"
            ],
            "gene_data": {
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                "hgnc_symbol": "CDC6",
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            "penetrance": "Complete",
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                "MPD",
                "microcephalic primordial dwarfism",
                "?Meier-Gorlin syndrome 5, 613805"
            ],
            "transcript": null,
            "entity_name": "CDC6",
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                "21358632",
                "22333897"
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            "confidence_level": "1",
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        },
        {
            "tags": [],
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            ],
            "gene_data": {
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                "?Microcephaly 12, primary, autosomal recessive, 616080"
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                            "location": "3:27757440-27764206",
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                ],
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                ],
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                            "location": "7:82383329-82792246",
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                    },
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                            "location": "7:82754013-83162930",
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            },
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        },
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                ],
                "gene_symbol": "PLAA",
                "hgnc_symbol": "PLAA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                            "location": "9:26904081-26947461",
                            "ensembl_id": "ENSG00000137055"
                        }
                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000137055"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-04-15"
            },
            "penetrance": "Complete",
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                "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527"
            ],
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            "entity_name": "PLAA",
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                "28413018"
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            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
        },
        {
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            ],
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                "omim_gene": [
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                "alias_name": null,
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                "ensembl_genes": {
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                    },
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                },
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            },
            "penetrance": "Complete",
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                "MSSGM2"
            ],
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            "entity_name": "PPP1R15B",
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                "26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C)",
                "26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution."
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "alias_name": null,
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                "?Microcephaly 14, primary, autosomal recessive, 616402"
            ],
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            "confidence_level": "1",
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        {
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            ],
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                "omim_gene": [
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                ],
                "alias_name": null,
                "gene_symbol": "TRMT1",
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                    }
                },
                "hgnc_date_symbol_changed": "2005-08-11"
            },
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                "Non‐syndromal congenital microcephaly"
            ],
            "transcript": null,
            "entity_name": "TRMT1",
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                "30289604"
            ],
            "confidence_level": "1",
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            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert list"
            ],
            "gene_data": {
                "alias": [
                    "GCP3",
                    "Spc98p",
                    "SPBC98"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18598",
                "gene_name": "tubulin gamma complex associated protein 3",
                "omim_gene": null,
                "alias_name": [
                    "spindle pole body protein"
                ],
                "gene_symbol": "TUBGCP3",
                "hgnc_symbol": "TUBGCP3",
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                            "location": "13:113139325-113242481",
                            "ensembl_id": "ENSG00000126216"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "2002-08-14"
            },
            "penetrance": "Complete",
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                "primary microcephaly"
            ],
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "Expert Review Red",
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            ],
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                "alias": [
                    "KIAA0993",
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                    "ZFYVE25"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20751",
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                "omim_gene": [
                    "617485"
                ],
                "alias_name": null,
                "gene_symbol": "WDFY3",
                "hgnc_symbol": "WDFY3",
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                "ensembl_genes": {
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                },
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            },
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                "?Microcephaly 18, primary, autosomal dominant, 617520"
            ],
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                "27008544"
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            "confidence_level": "1",
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            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS",
                "Expert list"
            ],
            "gene_data": {
                "alias": [],
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                "hgnc_id": "HGNC:12309",
                "gene_name": "zinc finger HIT-type containing 3",
                "omim_gene": [
                    "604500"
                ],
                "alias_name": null,
                "gene_symbol": "ZNHIT3",
                "hgnc_symbol": "ZNHIT3",
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            },
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            "phenotypes": [
                "PEHO syndrome, 260565",
                "microcephaly"
            ],
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            "confidence_level": "1",
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        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 122,
        "number_of_regions": 5
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
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        }
    ],
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        {
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                "ClinGen"
            ],
            "gene_data": null,
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            "phenotypes": [
                "123450",
                "PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay"
            ],
            "entity_name": "ISCA-37390-Loss",
            "entity_type": "region",
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                "11238681",
                "15635506"
            ],
            "verbose_name": "5p15 terminal (Cri du chat syndrome) region Loss",
            "confidence_level": "3",
            "type_of_variants": "cnv_loss",
            "grch37_coordinates": null,
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            ],
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            "required_overlap_percentage": 80
        },
        {
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                "Expert Review Green",
                "ClinGen"
            ],
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            "penetrance": null,
            "phenotypes": [
                "PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes",
                "610543"
            ],
            "entity_name": "ISCA-37406-Loss",
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            "publications": [
                "10573006",
                "16783566"
            ],
            "verbose_name": "16p13.3 region (includes CREBBP) Loss",
            "confidence_level": "3",
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            "grch37_coordinates": null,
            "grch38_coordinates": [
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                3880120
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "required_overlap_percentage": 80
        },
        {
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                "Expert Review Green",
                "ClinGen"
            ],
            "gene_data": null,
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            "phenotypes": [
                "PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)",
                "612513",
                "PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect"
            ],
            "entity_name": "ISCA-37408-Loss",
            "entity_type": "region",
            "publications": [
                "16963482",
                "22579565",
                "18245392"
            ],
            "verbose_name": "2p15p16.1 region (includes BCL11A) Loss",
            "confidence_level": "3",
            "type_of_variants": "cnv_loss",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                58912065,
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            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null,
            "triplosensitivity_score": null,
            "haploinsufficiency_score": "3",
            "required_overlap_percentage": 80
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "ClinGen"
            ],
            "gene_data": null,
            "chromosome": "5",
            "penetrance": null,
            "phenotypes": [
                "Microcephaly, short stature and developmental delay",
                "short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated."
            ],
            "entity_name": "ISCA-37425-Gain",
            "entity_type": "region",
            "publications": [
                "23913520",
                "23599694"
            ],
            "verbose_name": "5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain",
            "confidence_level": "3",
            "type_of_variants": "cnv_gain",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                176301975,
                177586960
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null,
            "triplosensitivity_score": "3",
            "haploinsufficiency_score": null,
            "required_overlap_percentage": 80
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "gene_data": null,
            "chromosome": "17",
            "penetrance": null,
            "phenotypes": [
                "Chromosome 17q23.1-q23.2 deletion syndrome, 613355",
                "PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities",
                "PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss"
            ],
            "entity_name": "ISCA-37501-Loss",
            "entity_type": "region",
            "publications": [
                "20206336",
                "22052739"
            ],
            "verbose_name": "17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss",
            "confidence_level": "3",
            "type_of_variants": "cnv_loss",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                60035641,
                62198448
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null,
            "triplosensitivity_score": null,
            "haploinsufficiency_score": "3",
            "required_overlap_percentage": 80
        }
    ],
    "version": "2.2",
    "disease_group": "Dysmorphic and congenital abnormality syndromes",
    "version_created": "2020-03-02T16:10:33.095174Z",
    "disease_sub_group": "DNA repair disorders",
    "relevant_disorders": [
        "Primary Microcephaly - Microcephalic Dwarfism Spectrum",
        "Severe microcephaly",
        "R88"
    ],
    "signed_off": "2020-03-02"
}