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            "penetrance": "Complete",
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                "Microcephaly 5, primary, autosomal recessive  608716"
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                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11  615181"
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                "omim_gene": [
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                "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3  615938"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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                "Expert Review"
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                "Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360"
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                            "location": "10:117542444-117549546",
                            "ensembl_id": "ENSG00000170370"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-02-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Schizencephaly, 269160"
            ],
            "transcript": null,
            "entity_name": "EMX2",
            "entity_type": "gene",
            "publications": [
                "8528262",
                "9359037"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Expert Review"
            ],
            "gene_data": {
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                    "LGMD2I",
                    "MDC1C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17997",
                "gene_name": "fukutin related protein",
                "omim_gene": [
                    "606596"
                ],
                "alias_name": null,
                "gene_symbol": "FKRP",
                "hgnc_symbol": "FKRP",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:47249303-47280245",
                            "ensembl_id": "ENSG00000181027"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "19:46746046-46776988",
                            "ensembl_id": "ENSG00000181027"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscle- eye- brain disease",
                "Warburg syndrome"
            ],
            "transcript": null,
            "entity_name": "FKRP",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "non-coding-known-pathogenic"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory",
                "UKGTN"
            ],
            "gene_data": {
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                    "LGMD2M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3622",
                "gene_name": "fukutin",
                "omim_gene": [
                    "607440"
                ],
                "alias_name": null,
                "gene_symbol": "FKTN",
                "hgnc_symbol": "FKTN",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:108320411-108403399",
                            "ensembl_id": "ENSG00000106692"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000106692"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-11-21"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4  253800"
            ],
            "transcript": null,
            "entity_name": "FKTN",
            "entity_type": "gene",
            "publications": [
                "9690476"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
            "tags": [
                "x-linked-over-dominance"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "ABP-280"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3754",
                "gene_name": "filamin A",
                "omim_gene": [
                    "300017"
                ],
                "alias_name": [
                    "actin binding protein 280",
                    "alpha filamin"
                ],
                "gene_symbol": "FLNA",
                "hgnc_symbol": "FLNA",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153576892-153603006",
                            "ensembl_id": "ENSG00000196924"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154348524-154374638",
                            "ensembl_id": "ENSG00000196924"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-18"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Periventricular Heterotopia 300049",
                "Melnick-Needles syndrome 309350",
                "Otopalatodigital syndrome, type I 311300",
                "Otopalatodigital syndrome, type II 304120"
            ],
            "transcript": null,
            "entity_name": "FLNA",
            "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": "Other - please provide details in the comments"
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "gene_data": {
                "alias": [
                    "LGN",
                    "Pins"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29501",
                "gene_name": "G protein signaling modulator 2",
                "omim_gene": [
                    "609245"
                ],
                "alias_name": null,
                "gene_symbol": "GPSM2",
                "hgnc_symbol": "GPSM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:109417972-109477167",
                            "ensembl_id": "ENSG00000121957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:108875350-108934545",
                            "ensembl_id": "ENSG00000121957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-03"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Chudley-McCullough syndrome  604213"
            ],
            "transcript": null,
            "entity_name": "GPSM2",
            "entity_type": "gene",
            "publications": [
                "20602914"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "hCG_1745121",
                    "IspD",
                    "Nip"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37276",
                "gene_name": "isoprenoid synthase domain containing",
                "omim_gene": [
                    "614631"
                ],
                "alias_name": [
                    "notch1-induced protein",
                    "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"
                ],
                "gene_symbol": "ISPD",
                "hgnc_symbol": "ISPD",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:16130817-16460947",
                            "ensembl_id": "ENSG00000214960"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:16087527-16421322",
                            "ensembl_id": "ENSG00000214960"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7  614643"
            ],
            "transcript": null,
            "entity_name": "ISPD",
            "entity_type": "gene",
            "publications": [
                "22522420"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6217",
                "gene_name": "katanin regulatory subunit B1",
                "omim_gene": [
                    "602703"
                ],
                "alias_name": null,
                "gene_symbol": "KATNB1",
                "hgnc_symbol": "KATNB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:57769642-57791162",
                            "ensembl_id": "ENSG00000140854"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:57735730-57757250",
                            "ensembl_id": "ENSG00000140854"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-08-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lissencephaly 6, with microcephaly\t616212"
            ],
            "transcript": null,
            "entity_name": "KATNB1",
            "entity_type": "gene",
            "publications": [
                "25521379",
                "25521378"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [
                "new-gene-name"
            ],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "gene_data": {
                "alias": [
                    "DKFZP586B0923",
                    "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"
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                    },
                    "GRch38": {
                        "90": {
                            "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"
            ],
            "transcript": null,
            "entity_name": "KIF1BP",
            "entity_type": "gene",
            "publications": [
                "15883926"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Expert Review",
                "Radboud University Medical Center, Nijmegen",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "HK2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6318",
                "gene_name": "kinesin family member 2A",
                "omim_gene": [
                    "602591"
                ],
                "alias_name": null,
                "gene_symbol": "KIF2A",
                "hgnc_symbol": "KIF2A",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:61601989-61833076",
                            "ensembl_id": "ENSG00000068796"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "5:62306162-62537249",
                            "ensembl_id": "ENSG00000068796"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-09-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 3"
            ],
            "transcript": null,
            "entity_name": "KIF2A",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Expert Review",
                "Other"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6325",
                "gene_name": "kinesin family member 5C",
                "omim_gene": [
                    "604593"
                ],
                "alias_name": null,
                "gene_symbol": "KIF5C",
                "hgnc_symbol": "KIF5C",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:149632819-149883273",
                            "ensembl_id": "ENSG00000168280"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:148875250-149026759",
                            "ensembl_id": "ENSG00000168280"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-08-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cortical dysplasia, complex, with other brain malformations 2"
            ],
            "transcript": null,
            "entity_name": "KIF5C",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6486",
                "gene_name": "laminin subunit beta 1",
                "omim_gene": [
                    "150240"
                ],
                "alias_name": null,
                "gene_symbol": "LAMB1",
                "hgnc_symbol": "LAMB1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107564244-107643700",
                            "ensembl_id": "ENSG00000091136"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107923799-108003255",
                            "ensembl_id": "ENSG00000091136"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Lissencephaly 5  615191"
            ],
            "transcript": null,
            "entity_name": "LAMB1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "DKFZp434E202"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6494",
                "gene_name": "laminin subunit gamma 3",
                "omim_gene": [
                    "604349"
                ],
                "alias_name": null,
                "gene_symbol": "LAMC3",
                "hgnc_symbol": "LAMC3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:133884469-133969860",
                            "ensembl_id": "ENSG00000050555"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:131009082-131094473",
                            "ensembl_id": "ENSG00000050555"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-07-23"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Cortical malformations, occipital  614115"
            ],
            "transcript": null,
            "entity_name": "LAMC3",
            "entity_type": "gene",
            "publications": [
                "21572413"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
                ],
                "alias_name": [
                    "like-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
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                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Muscle-eye-brain disease"
            ],
            "transcript": null,
            "entity_name": "LARGE1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0465",
                    "ACF7",
                    "ABP620",
                    "KIAA1251",
                    "MACF",
                    "FLJ45612",
                    "FLJ46776"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13664",
                "gene_name": "microtubule-actin crosslinking factor 1",
                "omim_gene": [
                    "608271"
                ],
                "alias_name": [
                    "actin cross-linking factor",
                    "620 kDa actin binding protein",
                    "macrophin 1",
                    "trabeculin-alpha",
                    "actin cross-linking family protein 7"
                ],
                "gene_symbol": "MACF1",
                "hgnc_symbol": "MACF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:39546988-39952849",
                            "ensembl_id": "ENSG00000127603"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:39081316-39487177",
                            "ensembl_id": "ENSG00000127603"
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                    }
                },
                "hgnc_date_symbol_changed": "2002-01-09"
            },
            "penetrance": null,
            "phenotypes": [
                "Lissencephaly 9 with complex brainstem malformation, 618325"
            ],
            "transcript": null,
            "entity_name": "MACF1",
            "entity_type": "gene",
            "publications": [
                "30471716"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
        },
        {
            "tags": [
                "somatic",
                "mosaicism"
            ],
            "evidence": [
                "Expert Review Green",
                "Literature"
            ],
            "gene_data": {
                "alias": [
                    "RAFT1",
                    "RAPT1",
                    "FLJ44809"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3942",
                "gene_name": "mechanistic target of rapamycin kinase",
                "omim_gene": [
                    "601231"
                ],
                "alias_name": [
                    "FK506 binding protein 12-rapamycin associated protein 2",
                    "rapamycin target protein",
                    "FKBP12-rapamycin complex-associated protein 1",
                    "FKBP-rapamycin associated protein",
                    "rapamycin associated protein FRAP2",
                    "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)",
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                    "mammalian target of rapamycin"
                ],
                "gene_symbol": "MTOR",
                "hgnc_symbol": "MTOR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:11166592-11322564",
                            "ensembl_id": "ENSG00000198793"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:11106535-11262507",
                            "ensembl_id": "ENSG00000198793"
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                    }
                },
                "hgnc_date_symbol_changed": "2009-05-29"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Focal cortical dysplasia, type II, somatic 607341"
            ],
            "transcript": null,
            "entity_name": "MTOR",
            "entity_type": "gene",
            "publications": [
                "26018084",
                "27830187",
                "25878179"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        },
        {
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        },
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            "phenotypes": [
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            "phenotypes": [
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                    }
                },
                "hgnc_date_symbol_changed": "1989-05-25"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Focal cortical dysplasia, type II, somatic 607341"
            ],
            "transcript": null,
            "entity_name": "TSC2",
            "entity_type": "gene",
            "publications": [
                "28215400",
                "19175396"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": "Other - please provide details in the comments"
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 74,
        "number_of_regions": 1
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "Component Of Super Panel",
            "slug": "component-of-super-panel",
            "description": "This panel is a component of a Super Panel"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": "568f8ba422c1fc1c79ca1774",
    "regions": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "ClinGen"
            ],
            "gene_data": null,
            "chromosome": "17",
            "penetrance": null,
            "phenotypes": [
                "microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay",
                "growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment",
                "Chromosome 17p13.3 duplication syndrome",
                "prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw",
                "Characteristic facies, pre- and post-natal growth retardation",
                "247200",
                "classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities",
                "Miller-Dieker lissencephaly syndrome"
            ],
            "entity_name": "ISCA-37430-Loss",
            "entity_type": "region",
            "publications": [],
            "verbose_name": "17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss",
            "confidence_level": "3",
            "type_of_variants": "cnv_loss",
            "grch37_coordinates": null,
            "grch38_coordinates": [
                1344539,
                2685615
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null,
            "triplosensitivity_score": "",
            "haploinsufficiency_score": "3",
            "required_overlap_percentage": 80
        }
    ],
    "version": "2.2",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "version_created": "2019-12-11T15:50:50.912714Z",
    "disease_sub_group": "Neurodevelopmental disorders",
    "relevant_disorders": [],
    "signed_off": "2020-02-25"
}