GET /api/v1/panels/519/?version=1.0
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 519,
    "name": "Cytopenia - NOT Fanconi anaemia",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "Ptop",
                    "Pip1",
                    "Tpp1",
                    "Tint1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25070",
                "gene_name": "ACD, shelterin complex subunit and telomerase recruitment factor",
                "omim_gene": [
                    "609377"
                ],
                "alias_name": [
                    "TIN2 interacting protein 1",
                    "POT1 and TIN2 organizing protein"
                ],
                "gene_symbol": "ACD",
                "hgnc_symbol": "ACD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:67691415-67694713",
                            "ensembl_id": "ENSG00000102977"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:67657512-67660815",
                            "ensembl_id": "ENSG00000102977"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-04"
            },
            "penetrance": null,
            "phenotypes": [
                "616553 ?Dyskeratosis congenita 6 and 7"
            ],
            "transcript": null,
            "entity_name": "ACD",
            "entity_type": "gene",
            "publications": [
                "25233904",
                "25205116"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "ADGF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1839",
                "gene_name": "adenosine deaminase 2",
                "omim_gene": [
                    "607575"
                ],
                "alias_name": null,
                "gene_symbol": "ADA2",
                "hgnc_symbol": "ADA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:17660194-17702879",
                            "ensembl_id": "ENSG00000093072"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:17178790-17221989",
                            "ensembl_id": "ENSG00000093072"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-02-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond Blackfan anaemia",
                "615688 Polyarteritis nodosa/Sneddon sydrome"
            ],
            "transcript": null,
            "entity_name": "ADA2",
            "entity_type": "gene",
            "publications": [
                "25075847",
                "24552285",
                "24552284"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "North West GLH",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1074"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29186",
                "gene_name": "ankyrin repeat domain 26",
                "omim_gene": [
                    "610855"
                ],
                "alias_name": null,
                "gene_symbol": "ANKRD26",
                "hgnc_symbol": "ANKRD26",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:27280843-27389421",
                            "ensembl_id": "ENSG00000107890"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:26991914-27100498",
                            "ensembl_id": "ENSG00000107890"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Thrombocytopenia 2, 188000"
            ],
            "transcript": null,
            "entity_name": "ANKRD26",
            "entity_type": "gene",
            "publications": [
                "2121161",
                "20626622"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "GCSFR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2439",
                "gene_name": "colony stimulating factor 3 receptor",
                "omim_gene": [
                    "138971"
                ],
                "alias_name": null,
                "gene_symbol": "CSF3R",
                "hgnc_symbol": "CSF3R",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:36931644-36948879",
                            "ensembl_id": "ENSG00000119535"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:36466043-36483278",
                            "ensembl_id": "ENSG00000119535"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-12-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Neutropenia, severe congenital, 7, autosomal recessive, 617014",
                "617014 Neutropenia, severe congenital, 7",
                "617014 Neutropenia, severe congenital, 7, autosomal recessive",
                "Severe congenital neutropenia"
            ],
            "transcript": null,
            "entity_name": "CSF3R",
            "entity_type": "gene",
            "publications": [
                "26324699",
                "12203110",
                "19620628"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ22170",
                    "AAF132"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26169",
                "gene_name": "CST telomere replication complex component 1",
                "omim_gene": [
                    "613129"
                ],
                "alias_name": [
                    "conserved telomere maintenance component 1",
                    "alpha accessory factor 132",
                    "conserved telomere capping protein 1"
                ],
                "gene_symbol": "CTC1",
                "hgnc_symbol": "CTC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:8130191-8151362",
                            "ensembl_id": "ENSG00000178971"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:8224821-8248044",
                            "ensembl_id": "ENSG00000178971"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-02-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita",
                "Dyskeratosis Congenita, Recessive",
                "Inherited Bone Marrow Failure Syndromes",
                "612199 Coats plus syndrome",
                "Dyskeratosis congenita"
            ],
            "transcript": null,
            "entity_name": "CTC1",
            "entity_type": "gene",
            "publications": [
                "22532422",
                "22899577",
                "22267198",
                "22387016"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "LESTR",
                    "NPY3R",
                    "HM89",
                    "NPYY3R",
                    "D2S201E",
                    "fusin",
                    "HSY3RR",
                    "NPYR",
                    "CD184"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2561",
                "gene_name": "C-X-C motif chemokine receptor 4",
                "omim_gene": [
                    "162643"
                ],
                "alias_name": null,
                "gene_symbol": "CXCR4",
                "hgnc_symbol": "CXCR4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:136871919-136875735",
                            "ensembl_id": "ENSG00000121966"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:136114349-136118165",
                            "ensembl_id": "ENSG00000121966"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated",
                "193670 WHIM syndrome",
                "WHIM syndrome, 193670",
                "Severe congenital neutropenia"
            ],
            "transcript": null,
            "entity_name": "CXCR4",
            "entity_type": "gene",
            "publications": [
                "10767001",
                "12692554"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "North West GLH",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Yorkshire and North East GLH"
            ],
            "gene_data": {
                "alias": [
                    "HCS",
                    "CYC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19986",
                "gene_name": "cytochrome c, somatic",
                "omim_gene": [
                    "123970"
                ],
                "alias_name": null,
                "gene_symbol": "CYCS",
                "hgnc_symbol": "CYCS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:25159710-25164980",
                            "ensembl_id": "ENSG00000172115"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:25120091-25125361",
                            "ensembl_id": "ENSG00000172115"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-12-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Thrombocytopenia 4, 612004",
                "Thrombocytopenia"
            ],
            "transcript": null,
            "entity_name": "CYCS",
            "entity_type": "gene",
            "publications": [
                "30051457",
                "18345000"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "XAP101",
                    "dyskerin",
                    "NAP57",
                    "NOLA4",
                    "Cbf5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2890",
                "gene_name": "dyskerin pseudouridine synthase 1",
                "omim_gene": [
                    "300126"
                ],
                "alias_name": [
                    "H/ACA ribonucleoprotein complex subunit 4"
                ],
                "gene_symbol": "DKC1",
                "hgnc_symbol": "DKC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153991031-154005964",
                            "ensembl_id": "ENSG00000130826"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154762742-154777689",
                            "ensembl_id": "ENSG00000130826"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Dyskeratosis congenita, X-linked, 305000",
                "305000 Dyskeratosis congenita",
                "Dyskeratosis congenita"
            ],
            "transcript": null,
            "entity_name": "DKC1",
            "entity_type": "gene",
            "publications": [
                "10364516",
                "9888995",
                "11379875"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "GS3",
                    "DNAJA5",
                    "JJJ1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27030",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member C21",
                "omim_gene": [
                    "617048"
                ],
                "alias_name": [
                    "JJJ1 DnaJ domain protein homolog (S. cerevisiae)"
                ],
                "gene_symbol": "DNAJC21",
                "hgnc_symbol": "DNAJC21",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:34929698-34959069",
                            "ensembl_id": "ENSG00000168724"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:34929593-34958964",
                            "ensembl_id": "ENSG00000168724"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-11-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Pancytopaenia",
                "Bone Marrow Failure",
                "617052 Bone marrow failure syndrome 3",
                "Bone marrow failure syndrome 3, 617052"
            ],
            "transcript": null,
            "entity_name": "DNAJC21",
            "entity_type": "gene",
            "publications": [
                "27346687"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "NE",
                    "HNE",
                    "HLE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3309",
                "gene_name": "elastase, neutrophil expressed",
                "omim_gene": [
                    "130130"
                ],
                "alias_name": [
                    "neutrophil elastase",
                    "leukocyte elastase",
                    "medullasin"
                ],
                "gene_symbol": "ELANE",
                "hgnc_symbol": "ELANE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:851014-856242",
                            "ensembl_id": "ENSG00000197561"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:851014-856247",
                            "ensembl_id": "ENSG00000197561"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-05-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Neutropenia, severe congenital 1, autosomal dominant, 202700",
                "Neutropenia, cyclic, 162800",
                "Neutropenia, severe congenital 1, autosomal dominant 202700",
                "202700 Neutropenia, severe congenital 1",
                "202700 Neutropenia, severe congenital 1, autosomal dominant",
                "Neutropenia, cyclic 162800",
                "162800 Cyclic neutropenia",
                "162800 Neutropenia, cyclic"
            ],
            "transcript": null,
            "entity_name": "ELANE",
            "entity_type": "gene",
            "publications": [
                "18028488",
                "11001877",
                "10581030"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ37706",
                    "RAD26L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26922",
                "gene_name": "ERCC excision repair 6 like 2",
                "omim_gene": [
                    "615667"
                ],
                "alias_name": null,
                "gene_symbol": "ERCC6L2",
                "hgnc_symbol": "ERCC6L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:98637983-98776842",
                            "ensembl_id": "ENSG00000182150"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:95875701-96014571",
                            "ensembl_id": "ENSG00000182150"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-03-30"
            },
            "penetrance": null,
            "phenotypes": [
                "615715 Bone marrow failure syndrome 2",
                "Bone marrow failure syndrome 2, 615715"
            ],
            "transcript": null,
            "entity_name": "ERCC6L2",
            "entity_type": "gene",
            "publications": [
                "24507776",
                "27185855"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "North West GLH",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "TEL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3495",
                "gene_name": "ETS variant 6",
                "omim_gene": [
                    "600618"
                ],
                "alias_name": [
                    "TEL oncogene"
                ],
                "gene_symbol": "ETV6",
                "hgnc_symbol": "ETV6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:11802788-12048336",
                            "ensembl_id": "ENSG00000139083"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:11649854-11895402",
                            "ensembl_id": "ENSG00000139083"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-11-28"
            },
            "penetrance": null,
            "phenotypes": [
                "616216 Thrombocytopenia 5"
            ],
            "transcript": null,
            "entity_name": "ETV6",
            "entity_type": "gene",
            "publications": [
                "25581430",
                "25807284"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "London South GLH",
                "North West GLH",
                "NHS GMS",
                "Yorkshire and North East GLH"
            ],
            "gene_data": {
                "alias": [
                    "SLAP-130",
                    "FYB-120/130",
                    "ADAP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4036",
                "gene_name": "FYN binding protein 1",
                "omim_gene": [
                    "602731"
                ],
                "alias_name": [
                    "adhesion and degranulation promoting adaptor protein"
                ],
                "gene_symbol": "FYB1",
                "hgnc_symbol": "FYB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:39105338-39274630",
                            "ensembl_id": "ENSG00000082074"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:39105236-39274528",
                            "ensembl_id": "ENSG00000082074"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-05-25"
            },
            "penetrance": null,
            "phenotypes": [
                "273900 Thrombocytopenia 3",
                "Thrombocytopenia 3, 273900"
            ],
            "transcript": null,
            "entity_name": "FYB1",
            "entity_type": "gene",
            "publications": [
                "25516138",
                "25876182"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "UGRP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24861",
                "gene_name": "glucose-6-phosphatase catalytic subunit 3",
                "omim_gene": [
                    "611045"
                ],
                "alias_name": null,
                "gene_symbol": "G6PC3",
                "hgnc_symbol": "G6PC3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42148103-42153709",
                            "ensembl_id": "ENSG00000141349"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44070735-44076344",
                            "ensembl_id": "ENSG00000141349"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Dursun syndrome, 612541",
                "Severe congenital neutropenic",
                "612541 Neutropenia, severe congenital 4, autosomal recessive",
                "Inherited Bone Marrow Failure Syndromes - Neutropenia",
                "Neutropenia, severe congenital 4, autosomal recessive, 612541",
                "Neutropenia, Severe Congenital, 4 Autosomal Dominant",
                "612541 Neutropenia, severe congenital 4",
                "Severe Congenital Neutropenia"
            ],
            "transcript": null,
            "entity_name": "G6PC3",
            "entity_type": "gene",
            "publications": [
                "19696212",
                "19118303",
                "20717171"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "Expert Review Green",
                "London South GLH",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "ERYF1",
                    "NFE1",
                    "GATA-1",
                    "NF-E1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4170",
                "gene_name": "GATA binding protein 1",
                "omim_gene": [
                    "305371"
                ],
                "alias_name": [
                    "nuclear factor, erythroid 1"
                ],
                "gene_symbol": "GATA1",
                "hgnc_symbol": "GATA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48644962-48652716",
                            "ensembl_id": "ENSG00000102145"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48786554-48794311",
                            "ensembl_id": "ENSG00000102145"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "penetrance": null,
            "phenotypes": [
                "314050 Thrombocytopenia with beta-thalassemia, X-linked",
                "Diamond Blackfan Anaemia",
                "Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367",
                "Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835",
                "Myelodysplastic syndrome (MDS), Paediatric",
                "Anaemia",
                "thrombocytopenia"
            ],
            "transcript": null,
            "entity_name": "GATA1",
            "entity_type": "gene",
            "publications": [
                "22706301",
                "24952648",
                "24766296",
                "10700180",
                "24453067",
                "12200364",
                "11809723"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "NFE1B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4171",
                "gene_name": "GATA binding protein 2",
                "omim_gene": [
                    "137295"
                ],
                "alias_name": null,
                "gene_symbol": "GATA2",
                "hgnc_symbol": "GATA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128198270-128212028",
                            "ensembl_id": "ENSG00000179348"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:128479427-128493185",
                            "ensembl_id": "ENSG00000179348"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-03"
            },
            "penetrance": null,
            "phenotypes": [
                "Congenital dyserythropoietic anemia (CDA)",
                "Myelodysplastic Syndrome",
                "Familial MDS (Myelodysplastic syndromes)",
                "Leukemia, Acute Myeloid",
                "{Leukemia, acute myeloid, susceptibility to}, 601626",
                "Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies",
                "{Myelodysplastic syndrome, susceptibility to}, 614286",
                "Primary Lymphedema with Myelodysplasia",
                "Lymphedema, Primary, With Myelodysplasia",
                "Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency",
                "614038 Emberger syndrome",
                "Immunodeficiency 21",
                "Emberger syndrome, 614038 (includes pancytopenia)",
                "Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172"
            ],
            "transcript": null,
            "entity_name": "GATA2",
            "entity_type": "gene",
            "publications": [
                "21892158",
                "21892162"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "GFI1A",
                    "GFI-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4237",
                "gene_name": "growth factor independent 1 transcriptional repressor",
                "omim_gene": [
                    "600871"
                ],
                "alias_name": null,
                "gene_symbol": "GFI1",
                "hgnc_symbol": "GFI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:92940319-92952433",
                            "ensembl_id": "ENSG00000162676"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:92474762-92486876",
                            "ensembl_id": "ENSG00000162676"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-10-17"
            },
            "penetrance": null,
            "phenotypes": [
                "613107 Neutropenia, severe congenital 2",
                "Severe congenital neutropenic",
                "Inherited Bone Marrow Failure Syndromes - Neutropenia",
                "Neutropenia, Severe Congenital, 2 Autosomal Dominant",
                "Neutropenia, Nonimmune Chronic Idiopathic, Of Adults",
                "Neutropenia, severe congenital 2, autosomal dominant, 613107",
                "607847 ?Neutropenia, nonimmune chronic idiopathic, of adults"
            ],
            "transcript": null,
            "entity_name": "GFI1",
            "entity_type": "gene",
            "publications": [
                "12778173"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "HS1BP1",
                    "HCLSBP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16915",
                "gene_name": "HCLS1 associated protein X-1",
                "omim_gene": [
                    "605998"
                ],
                "alias_name": [
                    "HCLS1 (and PKD2) associated protein"
                ],
                "gene_symbol": "HAX1",
                "hgnc_symbol": "HAX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:154244987-154248351",
                            "ensembl_id": "ENSG00000143575"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:154272511-154275875",
                            "ensembl_id": "ENSG00000143575"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-05-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Neutropenia, severe congenital 3, autosomal recessive, 610738",
                "Severe congenital neutropenic",
                "Inherited Bone Marrow Failure Syndromes - Neutropenia",
                "610738 Neutropenia, severe congenital 3, autosomal recessive",
                "610738 Neutropenia, severe congenital 3",
                "Neutropenia, Severe Congenital, 3 Autosomal Dominant"
            ],
            "transcript": null,
            "entity_name": "HAX1",
            "entity_type": "gene",
            "publications": [
                "18611981",
                "17187068",
                "18337561"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "GL009",
                    "FLJ14602"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26926",
                "gene_name": "jagunal homolog 1",
                "omim_gene": [
                    "616012"
                ],
                "alias_name": null,
                "gene_symbol": "JAGN1",
                "hgnc_symbol": "JAGN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:9932238-9936033",
                            "ensembl_id": "ENSG00000171135"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:9890554-9894349",
                            "ensembl_id": "ENSG00000171135"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-19"
            },
            "penetrance": null,
            "phenotypes": [
                "616022 Neutropenia, severe congenital, 6",
                "616022 Neutropenia, severe congenital, 6, autosomal recessive"
            ],
            "transcript": null,
            "entity_name": "JAGN1",
            "entity_type": "gene",
            "publications": [
                "11101832"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "MKLP1",
                    "MKLP-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6392",
                "gene_name": "kinesin family member 23",
                "omim_gene": [
                    "605064"
                ],
                "alias_name": null,
                "gene_symbol": "KIF23",
                "hgnc_symbol": "KIF23",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:69706585-69740764",
                            "ensembl_id": "ENSG00000137807"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:69414246-69448427",
                            "ensembl_id": "ENSG00000137807"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-17"
            },
            "penetrance": null,
            "phenotypes": [
                "CDA III",
                "Congenital dyserythropoietic anemia (CDA)",
                "Congenital dyserythropoietic anemia type III",
                "Enzyme Disorder"
            ],
            "transcript": null,
            "entity_name": "KIF23",
            "entity_type": "gene",
            "publications": [
                "7711721",
                "7323912",
                "23570799"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "EKLF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6345",
                "gene_name": "Kruppel like factor 1",
                "omim_gene": [
                    "600599"
                ],
                "alias_name": [
                    "erythroid Kruppel-like factor"
                ],
                "gene_symbol": "KLF1",
                "hgnc_symbol": "KLF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:12995237-12997995",
                            "ensembl_id": "ENSG00000105610"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:12884423-12887181",
                            "ensembl_id": "ENSG00000105610"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Dyserythropoietic anemia, congenital, type IV, 613673",
                "Congenital Dyserythropoietic Anemia"
            ],
            "transcript": null,
            "entity_name": "KLF1",
            "entity_type": "gene",
            "publications": [
                "21055716"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "MDS1-EVI1",
                    "PRDM3",
                    "KMT8E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3498",
                "gene_name": "MDS1 and EVI1 complex locus",
                "omim_gene": [
                    "165215"
                ],
                "alias_name": [
                    "PR domain 3"
                ],
                "gene_symbol": "MECOM",
                "hgnc_symbol": "MECOM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:168801287-169381406",
                            "ensembl_id": "ENSG00000085276"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:169083499-169663618",
                            "ensembl_id": "ENSG00000085276"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-08-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738",
                "616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"
            ],
            "transcript": null,
            "entity_name": "MECOM",
            "entity_type": "gene",
            "publications": [
                "29540340"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "Wessex and West Midlands GLH",
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD110",
                    "TPOR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7217",
                "gene_name": "MPL proto-oncogene, thrombopoietin receptor",
                "omim_gene": [
                    "159530"
                ],
                "alias_name": null,
                "gene_symbol": "MPL",
                "hgnc_symbol": "MPL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:43803478-43818443",
                            "ensembl_id": "ENSG00000117400"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:43337849-43352772",
                            "ensembl_id": "ENSG00000117400"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "penetrance": null,
            "phenotypes": [
                "601977 Thrombocythemia 2",
                "604498 Thrombocytopenia, congenital amegakaryocytic",
                "Thrombocytopenia, congenital amegakaryocytic, 604498"
            ],
            "transcript": null,
            "entity_name": "MPL",
            "entity_type": "gene",
            "publications": [
                "10077649",
                "18024606"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "DAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8609",
                "gene_name": "poly(A)-specific ribonuclease",
                "omim_gene": [
                    "604212"
                ],
                "alias_name": [
                    "deadenylation nuclease"
                ],
                "gene_symbol": "PARN",
                "hgnc_symbol": "PARN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:14529558-14726585",
                            "ensembl_id": "ENSG00000140694"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:14435701-14632728",
                            "ensembl_id": "ENSG00000140694"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "penetrance": null,
            "phenotypes": [
                "616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4",
                "616353 Dyskeratosis congenita, autosomal recessive 6",
                "616353 Dyskeratosis congenita, autosomal recessive 6"
            ],
            "transcript": null,
            "entity_name": "PARN",
            "entity_type": "gene",
            "publications": [
                "25848748",
                "26342108",
                "25893599"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RMRPR",
                    "RRP2",
                    "NME1"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:10031",
                "gene_name": "RNA component of mitochondrial RNA processing endoribonuclease",
                "omim_gene": [
                    "157660"
                ],
                "alias_name": null,
                "gene_symbol": "RMRP",
                "hgnc_symbol": "RMRP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:35657748-35658015",
                            "ensembl_id": "ENSG00000269900"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:35657751-35658018",
                            "ensembl_id": "ENSG00000269900"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "penetrance": null,
            "phenotypes": [
                "Cartilage-hair hypoplasia",
                "250250 Cartilage-hair hypoplasia",
                "Severe congenital neutropenia"
            ],
            "transcript": null,
            "entity_name": "RMRP",
            "entity_type": "gene",
            "publications": [
                "11207361",
                "16832578"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10301",
                "gene_name": "ribosomal protein L11",
                "omim_gene": [
                    "604175"
                ],
                "alias_name": null,
                "gene_symbol": "RPL11",
                "hgnc_symbol": "RPL11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:24018269-24022915",
                            "ensembl_id": "ENSG00000142676"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:23691779-23696425",
                            "ensembl_id": "ENSG00000142676"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond_Blackfan Anemia 7",
                "Diamond-Blackfan Anemia",
                "DIAMOND-BLACKFAN ANEMIA 7",
                "Diamond-Blackfan anemia 7, 612562",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPL11",
            "entity_type": "gene",
            "publications": [
                "19191325",
                "19061985",
                "23718193",
                "23812780"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RPL10",
                    "RPLY10",
                    "RPYL10",
                    "EC45",
                    "L15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10306",
                "gene_name": "ribosomal protein L15",
                "omim_gene": [
                    "604174"
                ],
                "alias_name": null,
                "gene_symbol": "RPL15",
                "hgnc_symbol": "RPL15",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:23958036-23965183",
                            "ensembl_id": "ENSG00000174748"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:23916545-23923692",
                            "ensembl_id": "ENSG00000174748"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "penetrance": null,
            "phenotypes": [
                "?Diamond-Blackfan anemia 12, 615550"
            ],
            "transcript": null,
            "entity_name": "RPL15",
            "entity_type": "gene",
            "publications": [
                "23812780",
                "19438500",
                "29599205"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L26"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10327",
                "gene_name": "ribosomal protein L26",
                "omim_gene": [
                    "603704"
                ],
                "alias_name": null,
                "gene_symbol": "RPL26",
                "hgnc_symbol": "RPL26",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:8280838-8286531",
                            "ensembl_id": "ENSG00000161970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:8377520-8383213",
                            "ensembl_id": "ENSG00000161970"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-06-15"
            },
            "penetrance": null,
            "phenotypes": [
                "?Diamond-Blackfan anemia 11, 614900"
            ],
            "transcript": null,
            "entity_name": "RPL26",
            "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",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10328",
                "gene_name": "ribosomal protein L27",
                "omim_gene": [
                    "607526"
                ],
                "alias_name": [
                    "60S ribosomal protein L27"
                ],
                "gene_symbol": "RPL27",
                "hgnc_symbol": "RPL27",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:41150290-41154976",
                            "ensembl_id": "ENSG00000131469"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:42998273-43002959",
                            "ensembl_id": "ENSG00000131469"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia",
                "?Diamond-Blackfan anemia 16, 617408"
            ],
            "transcript": null,
            "entity_name": "RPL27",
            "entity_type": "gene",
            "publications": [
                "25424902"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L31"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10334",
                "gene_name": "ribosomal protein L31",
                "omim_gene": [
                    "617415"
                ],
                "alias_name": null,
                "gene_symbol": "RPL31",
                "hgnc_symbol": "RPL31",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:101618177-101640494",
                            "ensembl_id": "ENSG00000071082"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:101001715-101024032",
                            "ensembl_id": "ENSG00000071082"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-06-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anaemia"
            ],
            "transcript": null,
            "entity_name": "RPL31",
            "entity_type": "gene",
            "publications": [
                "25424902",
                "25042156"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L35A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10345",
                "gene_name": "ribosomal protein L35a",
                "omim_gene": [
                    "180468"
                ],
                "alias_name": null,
                "gene_symbol": "RPL35A",
                "hgnc_symbol": "RPL35A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:197676858-197683481",
                            "ensembl_id": "ENSG00000182899"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:197949987-197956610",
                            "ensembl_id": "ENSG00000182899"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-11-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia 5, 612528",
                "Diamond-Blackfan Anemia",
                "DIAMOND-BLACKFAN ANEMIA 5",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond Blackfan Anemia 5",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPL35A",
            "entity_type": "gene",
            "publications": [
                "25946618",
                "18535205"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L5",
                    "PPP1R135"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10360",
                "gene_name": "ribosomal protein L5",
                "omim_gene": [
                    "603634"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 135"
                ],
                "gene_symbol": "RPL5",
                "hgnc_symbol": "RPL5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:93297582-93307481",
                            "ensembl_id": "ENSG00000122406"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:92832025-92841924",
                            "ensembl_id": "ENSG00000122406"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-09-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia 6, 612561",
                "DIAMOND-BLACKFAN ANEMIA 6",
                "Diamond Blackfan Anemia 6",
                "Diamond-Blackfan Anemia",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPL5",
            "entity_type": "gene",
            "publications": [
                "25946618",
                "19191325",
                "19061985"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10369",
                "gene_name": "ribosomal protein L9",
                "omim_gene": [
                    "603686"
                ],
                "alias_name": null,
                "gene_symbol": "RPL9",
                "hgnc_symbol": "RPL9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:39455744-39460568",
                            "ensembl_id": "ENSG00000163682"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:39454124-39458948",
                            "ensembl_id": "ENSG00000163682"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPL9",
            "entity_type": "gene",
            "publications": [
                "23718193",
                "20116044",
                "29114930"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "MGC88819",
                    "S10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10383",
                "gene_name": "ribosomal protein S10",
                "omim_gene": [
                    "603632"
                ],
                "alias_name": null,
                "gene_symbol": "RPS10",
                "hgnc_symbol": "RPS10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:34385231-34393902",
                            "ensembl_id": "ENSG00000124614"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:34417454-34426125",
                            "ensembl_id": "ENSG00000124614"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond_Blackfan Anemia 9",
                "Diamond-Blackfan Anemia",
                "Diamond-Blackfan anemia 9, 613308",
                "DIAMOND-BLACKFAN ANEMIA 9",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPS10",
            "entity_type": "gene",
            "publications": [
                "25946618",
                "20116044",
                "23718193"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RPS17L1",
                    "RPS17L2",
                    "MGC72007",
                    "S17"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10397",
                "gene_name": "ribosomal protein S17",
                "omim_gene": [
                    "180472"
                ],
                "alias_name": null,
                "gene_symbol": "RPS17",
                "hgnc_symbol": "RPS17",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:83205504-83209315",
                            "ensembl_id": "ENSG00000182774"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:82536753-82540564",
                            "ensembl_id": "ENSG00000182774"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-11-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia 4, 612527"
            ],
            "transcript": null,
            "entity_name": "RPS17",
            "entity_type": "gene",
            "publications": [
                "22045982",
                "19953637",
                "17647292",
                "19061985",
                "23812780"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "DBA",
                    "S19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10402",
                "gene_name": "ribosomal protein S19",
                "omim_gene": [
                    "603474"
                ],
                "alias_name": [
                    "Diamond-Blackfan anemia"
                ],
                "gene_symbol": "RPS19",
                "hgnc_symbol": "RPS19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:42363988-42376994",
                            "ensembl_id": "ENSG00000105372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:41859918-41872926",
                            "ensembl_id": "ENSG00000105372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond_Blackfan Anemia",
                "Diamond-Blackfan anemia 1, 105650",
                "DIAMOND-BLACKFAN ANEMIA 1",
                "Diamond-Blackfan Anemia",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPS19",
            "entity_type": "gene",
            "publications": [
                "25946618",
                "24675553",
                "15384984",
                "9988267"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "S24"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10411",
                "gene_name": "ribosomal protein S24",
                "omim_gene": [
                    "602412"
                ],
                "alias_name": null,
                "gene_symbol": "RPS24",
                "hgnc_symbol": "RPS24",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:79793518-79816570",
                            "ensembl_id": "ENSG00000138326"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:78033760-78056812",
                            "ensembl_id": "ENSG00000138326"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-08-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond_Blackfan Anemia 3",
                "DIAMOND-BLACKFAN ANEMIA 3",
                "Diamond-Blackfan Anemia",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond-blackfan anemia 3, 610629",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPS24",
            "entity_type": "gene",
            "publications": [
                "17186470",
                "19689926",
                "19773262",
                "25946618",
                "8647458",
                "2210388",
                "23812780"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "S26"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10414",
                "gene_name": "ribosomal protein S26",
                "omim_gene": [
                    "603701"
                ],
                "alias_name": [
                    "40S ribosomal protein S26"
                ],
                "gene_symbol": "RPS26",
                "hgnc_symbol": "RPS26",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:56435637-56438116",
                            "ensembl_id": "ENSG00000197728"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:56041853-56044675",
                            "ensembl_id": "ENSG00000197728"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-01-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond-Blackfan anemia 10",
                "Diamond-Blackfan Anemia",
                "Diamond-Blackfan anemia 10, 613309",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPS26",
            "entity_type": "gene",
            "publications": [
                "24675553",
                "25946618",
                "24942156",
                "20116044",
                "23812780"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "S29"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10419",
                "gene_name": "ribosomal protein S29",
                "omim_gene": [
                    "603633"
                ],
                "alias_name": null,
                "gene_symbol": "RPS29",
                "hgnc_symbol": "RPS29",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:50043390-50065408",
                            "ensembl_id": "ENSG00000213741"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:49570984-49599164",
                            "ensembl_id": "ENSG00000213741"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia 13, 615909",
                "Diamond-Blackfan anaemia"
            ],
            "transcript": null,
            "entity_name": "RPS29",
            "entity_type": "gene",
            "publications": [
                "24829207"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "S7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10440",
                "gene_name": "ribosomal protein S7",
                "omim_gene": [
                    "603658"
                ],
                "alias_name": null,
                "gene_symbol": "RPS7",
                "hgnc_symbol": "RPS7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:3622795-3628509",
                            "ensembl_id": "ENSG00000171863"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:3575205-3580919",
                            "ensembl_id": "ENSG00000171863"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-07"
            },
            "penetrance": null,
            "phenotypes": [
                "DIAMOND-BLACKFAN ANEMIA 8",
                "Diamond_Blackfan Anemia 8",
                "Diamond-Blackfan anemia 8, 612563",
                "Diamond-Blackfan Anemia",
                "Inherited Bone Marrow Failure Syndromes",
                "Diamond Blackfan anemia"
            ],
            "transcript": null,
            "entity_name": "RPS7",
            "entity_type": "gene",
            "publications": [
                "25946618",
                "23718193",
                "27882484",
                "19061985"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "bK3184A7.3",
                    "NHL",
                    "DKFZP434C013",
                    "KIAA1088",
                    "RTEL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15888",
                "gene_name": "regulator of telomere elongation helicase 1",
                "omim_gene": [
                    "608833"
                ],
                "alias_name": null,
                "gene_symbol": "RTEL1",
                "hgnc_symbol": "RTEL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62289163-62328416",
                            "ensembl_id": "ENSG00000258366"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:63657810-63696253",
                            "ensembl_id": "ENSG00000258366"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-10-29"
            },
            "penetrance": null,
            "phenotypes": [
                "616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related",
                "615190 Dyskeratosis congenita",
                "616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3",
                "615190 DC type 4 and 5",
                "Dyskeratosis congenita, autosomal dominant 4, 615190",
                "Dyskeratosis congenita, autosomal recessive 5, 615190",
                "Dyskeratosis congenita, autosomal recessive 5 615190"
            ],
            "transcript": null,
            "entity_name": "RTEL1",
            "entity_type": "gene",
            "publications": [
                "23453664",
                "23329068",
                "23959892"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA2004",
                    "FLJ20073"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1348",
                "gene_name": "sterile alpha motif domain containing 9",
                "omim_gene": [
                    "610456"
                ],
                "alias_name": null,
                "gene_symbol": "SAMD9",
                "hgnc_symbol": "SAMD9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:92728829-92747336",
                            "ensembl_id": "ENSG00000205413"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:93099513-93118023",
                            "ensembl_id": "ENSG00000205413"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-16"
            },
            "penetrance": null,
            "phenotypes": [
                "MIRAGE syndrome, 617053",
                "617053 MIRAGE syndrome"
            ],
            "transcript": null,
            "entity_name": "SAMD9",
            "entity_type": "gene",
            "publications": [
                "27182967"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA2005",
                    "FLJ39885"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1349",
                "gene_name": "sterile alpha motif domain containing 9 like",
                "omim_gene": [
                    "611170"
                ],
                "alias_name": null,
                "gene_symbol": "SAMD9L",
                "hgnc_symbol": "SAMD9L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:92759368-92777682",
                            "ensembl_id": "ENSG00000177409"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:93130055-93148369",
                            "ensembl_id": "ENSG00000177409"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-04-26"
            },
            "penetrance": null,
            "phenotypes": [
                "159550 Ataxia-pancytopenia syndrome",
                "Ataxia-pancytopenia syndrome, 159550"
            ],
            "transcript": null,
            "entity_name": "SAMD9L",
            "entity_type": "gene",
            "publications": [
                "27259050"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CGI-97",
                    "FLJ10917",
                    "SDS",
                    "SWDS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19440",
                "gene_name": "SBDS, ribosome maturation factor",
                "omim_gene": [
                    "607444"
                ],
                "alias_name": null,
                "gene_symbol": "SBDS",
                "hgnc_symbol": "SBDS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:66452664-66460588",
                            "ensembl_id": "ENSG00000126524"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:66987677-66995601",
                            "ensembl_id": "ENSG00000126524"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-07-02"
            },
            "penetrance": null,
            "phenotypes": [
                "Shwachman-Diamond syndrome, 260400",
                "260400 Shwachman-Diamond syndrome",
                "Shwachman-Diamond syndrome 260400"
            ],
            "transcript": null,
            "entity_name": "SBDS",
            "entity_type": "gene",
            "publications": [
                "12496757"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Expert review Green",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "ASV",
                    "c-src"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11283",
                "gene_name": "SRC proto-oncogene, non-receptor tyrosine kinase",
                "omim_gene": [
                    "190090"
                ],
                "alias_name": null,
                "gene_symbol": "SRC",
                "hgnc_symbol": "SRC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:35973088-36034453",
                            "ensembl_id": "ENSG00000197122"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:37344685-37406050",
                            "ensembl_id": "ENSG00000197122"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "?Thrombocytopenia 6, 616937"
            ],
            "transcript": null,
            "entity_name": "SRC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "BTHS",
                    "XAP-2",
                    "G4.5",
                    "TAZ1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11577",
                "gene_name": "tafazzin",
                "omim_gene": [
                    "300394"
                ],
                "alias_name": [
                    "Barth syndrome"
                ],
                "gene_symbol": "TAZ",
                "hgnc_symbol": "TAZ",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153639854-153650065",
                            "ensembl_id": "ENSG00000102125"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154411518-154421726",
                            "ensembl_id": "ENSG00000102125"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Barth syndrome, 302060",
                "302060 Barth syndrome"
            ],
            "transcript": null,
            "entity_name": "TAZ",
            "entity_type": "gene",
            "publications": [
                "9345098",
                "9382096"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "TR",
                    "hTR",
                    "TRC3",
                    "SCARNA19"
                ],
                "biotype": "lincRNA",
                "hgnc_id": "HGNC:11727",
                "gene_name": "telomerase RNA component",
                "omim_gene": [
                    "602322"
                ],
                "alias_name": [
                    "small Cajal body-specific RNA 19"
                ],
                "gene_symbol": "TERC",
                "hgnc_symbol": "TERC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:169482308-169482848",
                            "ensembl_id": "ENSG00000270141"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:169764520-169765060",
                            "ensembl_id": "ENSG00000270141"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia",
                "614743 pulmonary fibrosis and/or bone marrow failure",
                "129550 Dyskeratosis congenita, autosomal dominant 1",
                "Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2",
                "Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1",
                "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1",
                "127550 Dyskeratosis congenita, autosomal dominant 1",
                "Dyskeratosis congenita",
                "Dyskeratosis Congenita, Autosomal Dominant, 1",
                "Inherited Bone Marrow Failure Syndromes"
            ],
            "transcript": null,
            "entity_name": "TERC",
            "entity_type": "gene",
            "publications": [
                "11574891",
                "12090986"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "TRT",
                    "TP2",
                    "TCS1",
                    "hEST2",
                    "EST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11730",
                "gene_name": "telomerase reverse transcriptase",
                "omim_gene": [
                    "187270"
                ],
                "alias_name": null,
                "gene_symbol": "TERT",
                "hgnc_symbol": "TERT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:1253262-1295184",
                            "ensembl_id": "ENSG00000164362"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:1253147-1295069",
                            "ensembl_id": "ENSG00000164362"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-21"
            },
            "penetrance": null,
            "phenotypes": [
                "{Pulmonary fibrosis, telomere-related, 1}, 614742",
                "{Dyskeratosis congenita, autosomal dominant 2}, 613989",
                "Coronary artery disease",
                "{Melanoma, cutaneous malignant, 9}, 615134",
                "614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1",
                "Aplastic Anemia",
                "614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}",
                "{Leukemia, acute myeloid}, 601626",
                "613989 Dyskeratosis congenita",
                "{Dyskeratosis congenita, autosomal recessive 4}, 613989"
            ],
            "transcript": null,
            "entity_name": "TERT",
            "entity_type": "gene",
            "publications": [
                "21436073",
                "18460650",
                "18042801"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "Wessex and West Midlands GLH",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Expert Review Green",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "TPO",
                    "MPLLG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11795",
                "gene_name": "thrombopoietin",
                "omim_gene": [
                    "600044"
                ],
                "alias_name": [
                    "prepro-thrombopoietin",
                    "megakaryocyte stimulating factor",
                    "myeloproliferative leukemia virus oncogene ligand",
                    "megakaryocyte growth and development factor",
                    "MPL ligand",
                    "megakaryocyte colony-stimulating factor",
                    "c-mpl ligand",
                    "thrombopoietin nirs variant 1"
                ],
                "gene_symbol": "THPO",
                "hgnc_symbol": "THPO",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:184089723-184095932",
                            "ensembl_id": "ENSG00000090534"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:184371935-184378144",
                            "ensembl_id": "ENSG00000090534"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-11-04"
            },
            "penetrance": null,
            "phenotypes": [
                "187950 Thrombocythemia 1",
                "Thrombocythemia 1, 187950"
            ],
            "transcript": null,
            "entity_name": "THPO",
            "entity_type": "gene",
            "publications": [
                "24085763",
                "28466964",
                "28559357",
                "29191945"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "TIN2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11824",
                "gene_name": "TERF1 interacting nuclear factor 2",
                "omim_gene": [
                    "604319"
                ],
                "alias_name": null,
                "gene_symbol": "TINF2",
                "hgnc_symbol": "TINF2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:24708849-24711880",
                            "ensembl_id": "ENSG00000092330"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:24239643-24242674",
                            "ensembl_id": "ENSG00000092330"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-11-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia",
                "268130 Revesz syndrome",
                "Revesz Syndrome",
                "Dyskeratosis Congenita, Autosomal Dominant, 3",
                "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3",
                "Dyskeratosis congenita",
                "613990 Dyskeratosis congenita, autosomal dominant 3",
                "Dyskeratosis congenita, autosomal dominant 3, 613990",
                "Revesz syndrome, 268130",
                "Inherited Bone Marrow Failure Syndromes",
                "Dyskeratosis Congenita, Dominant"
            ],
            "transcript": null,
            "entity_name": "TINF2",
            "entity_type": "gene",
            "publications": [
                "18669893",
                "21536674"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13154",
                    "HVSL1",
                    "Mpn1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25792",
                "gene_name": "U6 snRNA biogenesis phosphodiesterase 1",
                "omim_gene": [
                    "613276"
                ],
                "alias_name": [
                    "HVSL motif containing 1",
                    "poikiloderma with neutropenia",
                    "U six biogenesis 1",
                    "mutated in poikiloderma with neutropenia protein 1"
                ],
                "gene_symbol": "USB1",
                "hgnc_symbol": "USB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:58033450-58055522",
                            "ensembl_id": "ENSG00000103005"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:57999546-58021618",
                            "ensembl_id": "ENSG00000103005"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Poikiloderma with neutropenia, 604173",
                "604173 Poikiloderma with neutropenia",
                "Dyskeratosis congenita"
            ],
            "transcript": null,
            "entity_name": "USB1",
            "entity_type": "gene",
            "publications": [
                "20503306",
                "20004881"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "h-vps45",
                    "H1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14579",
                "gene_name": "vacuolar protein sorting 45 homolog",
                "omim_gene": [
                    "610035"
                ],
                "alias_name": null,
                "gene_symbol": "VPS45",
                "hgnc_symbol": "VPS45",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:150039369-150117505",
                            "ensembl_id": "ENSG00000136631"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:150067293-150145327",
                            "ensembl_id": "ENSG00000136631"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-12-19"
            },
            "penetrance": null,
            "phenotypes": [
                "615285 Neutropenia, severe congenital, 5",
                "VPS45 deficiency",
                "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
                "Neutropenia, severe congenital, 5, autosomal recessive, 615285",
                "615285 Neutropenia, severe congenital, 5, autosomal recessive",
                "Severe congenital neutropenia"
            ],
            "transcript": null,
            "entity_name": "VPS45",
            "entity_type": "gene",
            "publications": [
                "23738510",
                "23599270"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Expert Review Green",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "WASP",
                    "WASPA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12731",
                "gene_name": "Wiskott-Aldrich syndrome",
                "omim_gene": [
                    "300392"
                ],
                "alias_name": [
                    "eczema-thrombocytopenia"
                ],
                "gene_symbol": "WAS",
                "hgnc_symbol": "WAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:48534985-48549818",
                            "ensembl_id": "ENSG00000015285"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:48676596-48691427",
                            "ensembl_id": "ENSG00000015285"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "313900 Thrombocytopenia, X-linked",
                "Neutropenia, severe congenital, X-linked, 300299",
                "Thrombocytopenia, X-linked, intermittent 313900",
                "313900 Thrombocytopenia",
                "Wiskott-Aldrich syndrome, 301000",
                "Thrombocytopenia, X-linked 313900",
                "Thrombocytopenia, X-linked, intermittent, 313900"
            ],
            "transcript": null,
            "entity_name": "WAS",
            "entity_type": "gene",
            "publications": [
                "8528199",
                "8757563",
                "11167787"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "WIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12736",
                "gene_name": "WAS/WASL interacting protein family member 1",
                "omim_gene": [
                    "602357"
                ],
                "alias_name": null,
                "gene_symbol": "WIPF1",
                "hgnc_symbol": "WIPF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:175424300-175547644",
                            "ensembl_id": "ENSG00000115935"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:174559572-174682916",
                            "ensembl_id": "ENSG00000115935"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-10-12"
            },
            "penetrance": null,
            "phenotypes": [
                "WIP deficiency",
                "Wiskott-Aldrich syndrome like, WIP deficiency",
                "?Wiskott-Aldrich syndrome 2,  614493",
                "Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent",
                "?Wiskott-Aldrich syndrome 2, 614493"
            ],
            "transcript": null,
            "entity_name": "WIPF1",
            "entity_type": "gene",
            "publications": [
                "27742395",
                "11869681",
                "22231303",
                "14757742",
                "9405671"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ10385",
                    "TCAB1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25522",
                "gene_name": "WD repeat containing antisense to TP53",
                "omim_gene": [
                    "612661"
                ],
                "alias_name": [
                    "telomerase cajal body protein 1",
                    "WD-encoding RNA antisense to p53"
                ],
                "gene_symbol": "WRAP53",
                "hgnc_symbol": "WRAP53",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7589389-7606820",
                            "ensembl_id": "ENSG00000141499"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:7686071-7703502",
                            "ensembl_id": "ENSG00000141499"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-02-16"
            },
            "penetrance": null,
            "phenotypes": [
                "Dyskeratosis congenita, autosomal recessive 3, 613988",
                "613988 Dyskeratosis congenita, autosomal recessive 3",
                "Dyskeratosis Congenita, Recessive",
                "300299 Neutropenia, severe congenital, X-linked",
                "Dyskeratosis congenita",
                "Dyskeratosis Congenita, Autosomal Recessive, 3",
                "Inherited Bone Marrow Failure Syndromes"
            ],
            "transcript": null,
            "entity_name": "WRAP53",
            "entity_type": "gene",
            "publications": [
                "29514627",
                "21205863"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "STSL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13886",
                "gene_name": "ATP binding cassette subfamily G member 5",
                "omim_gene": [
                    "605459"
                ],
                "alias_name": [
                    "sterolin 1"
                ],
                "gene_symbol": "ABCG5",
                "hgnc_symbol": "ABCG5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:44039611-44066004",
                            "ensembl_id": "ENSG00000138075"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:43812472-43838865",
                            "ensembl_id": "ENSG00000138075"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-12-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Sitosterolemia with macrothrombocytopenia",
                "Sitosterolemia, 210250"
            ],
            "transcript": null,
            "entity_name": "ABCG5",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "GBD4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13887",
                "gene_name": "ATP binding cassette subfamily G member 8",
                "omim_gene": [
                    "605460"
                ],
                "alias_name": [
                    "gallbladder disease 4",
                    "sterolin 2"
                ],
                "gene_symbol": "ABCG8",
                "hgnc_symbol": "ABCG8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:44066103-44105605",
                            "ensembl_id": "ENSG00000143921"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:43838964-43878466",
                            "ensembl_id": "ENSG00000143921"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-12-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Sitosterolemia with macrothrombocytopenia",
                "Sitosterolemia, 210250"
            ],
            "transcript": null,
            "entity_name": "ABCG8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "CCBP1",
                    "GPD",
                    "Dfy",
                    "CD234"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4035",
                "gene_name": "atypical chemokine receptor 1 (Duffy blood group)",
                "omim_gene": [
                    "613665"
                ],
                "alias_name": [
                    "atypical chemokine receptor 1"
                ],
                "gene_symbol": "ACKR1",
                "hgnc_symbol": "ACKR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:159173097-159176290",
                            "ensembl_id": "ENSG00000213088"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:159203307-159206500",
                            "ensembl_id": "ENSG00000213088"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-04-04"
            },
            "penetrance": null,
            "phenotypes": [
                "613665 Benign hereditary neutropenia"
            ],
            "transcript": null,
            "entity_name": "ACKR1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:163",
                "gene_name": "actinin alpha 1",
                "omim_gene": [
                    "102575"
                ],
                "alias_name": null,
                "gene_symbol": "ACTN1",
                "hgnc_symbol": "ACTN1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:69340860-69446157",
                            "ensembl_id": "ENSG00000072110"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:68874143-68979440",
                            "ensembl_id": "ENSG00000072110"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Bleeding disorder, platelet-type, 15, 615193",
                "Macrothrombocytopenia"
            ],
            "transcript": null,
            "entity_name": "ACTN1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "VWFCP",
                    "TTP",
                    "vWF-CP",
                    "FLJ42993",
                    "MGC118899",
                    "MGC118900",
                    "DKFZp434C2322"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1366",
                "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
                "omim_gene": [
                    "604134"
                ],
                "alias_name": null,
                "gene_symbol": "ADAMTS13",
                "hgnc_symbol": "ADAMTS13",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:136279478-136324508",
                            "ensembl_id": "ENSG00000160323"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:133414358-133459402",
                            "ensembl_id": "ENSG00000160323"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-09-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Thrombotic thrombocytopenic purpura, familial, 274150"
            ],
            "transcript": null,
            "entity_name": "ADAMTS13",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "ADTB3A",
                    "HPS2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:566",
                "gene_name": "adaptor related protein complex 3 beta 1 subunit",
                "omim_gene": [
                    "603401"
                ],
                "alias_name": null,
                "gene_symbol": "AP3B1",
                "hgnc_symbol": "AP3B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:77296349-77590579",
                            "ensembl_id": "ENSG00000132842"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:78000525-78294755",
                            "ensembl_id": "ENSG00000132842"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-09-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Hermansky-Pudlak syndrome 2, 608233"
            ],
            "transcript": null,
            "entity_name": "AP3B1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ13119",
                    "FAM42A",
                    "HsT19294",
                    "RIA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25789",
                "gene_name": "elongation factor like GTPase 1",
                "omim_gene": [
                    "617538"
                ],
                "alias_name": [
                    "ribosome assembly 1 homolog (yeast)"
                ],
                "gene_symbol": "EFL1",
                "hgnc_symbol": "EFL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:82422571-82555104",
                            "ensembl_id": "ENSG00000140598"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:82130230-82262763",
                            "ensembl_id": "ENSG00000140598"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-01-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Shwachman-Diamond syndrome 2, 617941",
                "617941 Shwachman-Diamond syndrome 2"
            ],
            "transcript": null,
            "entity_name": "EFL1",
            "entity_type": "gene",
            "publications": [
                "29970384, 28331068"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD16",
                    "CD16b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3620",
                "gene_name": "Fc fragment of IgG receptor IIIb",
                "omim_gene": [
                    "610665"
                ],
                "alias_name": [
                    "Fc gamma receptor IIIb"
                ],
                "gene_symbol": "FCGR3B",
                "hgnc_symbol": "FCGR3B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:161592986-161601753",
                            "ensembl_id": "ENSG00000162747"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:161623196-161631963",
                            "ensembl_id": "ENSG00000162747"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Neutropenia,alloimmuneneonatal"
            ],
            "transcript": null,
            "entity_name": "FCGR3B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Other - please specify in evaluation comments",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "SIC-1",
                    "EWSR2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3749",
                "gene_name": "Fli-1 proto-oncogene, ETS transcription factor",
                "omim_gene": [
                    "193067"
                ],
                "alias_name": null,
                "gene_symbol": "FLI1",
                "hgnc_symbol": "FLI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:128556430-128683162",
                            "ensembl_id": "ENSG00000151702"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:128686535-128813267",
                            "ensembl_id": "ENSG00000151702"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Bleeding disorder, platelet-type, 21, 617443"
            ],
            "transcript": null,
            "entity_name": "FLI1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD42b",
                    "GPIbalpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4439",
                "gene_name": "glycoprotein Ib platelet alpha subunit",
                "omim_gene": [
                    "606672"
                ],
                "alias_name": [
                    "platelet glycoprotein Ib alpha chain"
                ],
                "gene_symbol": "GP1BA",
                "hgnc_symbol": "GP1BA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:4835592-4838325",
                            "ensembl_id": "ENSG00000185245"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:4932297-4935030",
                            "ensembl_id": "ENSG00000185245"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Bernard-Soulier syndrome, type A1, 231200",
                "Mild macrothrombocytopenia",
                "Platelet type VWD, mild thrombocytopenia"
            ],
            "transcript": null,
            "entity_name": "GP1BA",
            "entity_type": "gene",
            "publications": [
                "2308962"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD42c",
                    "GPIbbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4440",
                "gene_name": "glycoprotein Ib platelet beta subunit",
                "omim_gene": [
                    "138720"
                ],
                "alias_name": [
                    "platelet glycoprotein Ib beta chain"
                ],
                "gene_symbol": "GP1BB",
                "hgnc_symbol": "GP1BB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:19710468-19712294",
                            "ensembl_id": "ENSG00000203618"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:19722945-19724771",
                            "ensembl_id": "ENSG00000203618"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-11-21"
            },
            "penetrance": null,
            "phenotypes": [
                "Bernard-Soulier syndrome, type B, 231200",
                "Mild macrothrombocytopenia"
            ],
            "transcript": null,
            "entity_name": "GP1BB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD42a",
                    "GPIX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4444",
                "gene_name": "glycoprotein IX platelet",
                "omim_gene": [
                    "173515"
                ],
                "alias_name": [
                    "platelet glycoprotein IX"
                ],
                "gene_symbol": "GP9",
                "hgnc_symbol": "GP9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128779610-128781249",
                            "ensembl_id": "ENSG00000169704"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:129060767-129062406",
                            "ensembl_id": "ENSG00000169704"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-03-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Bernard-Soulier syndrome (includes macrothrombocytopenia)",
                "Bernard-Soulier syndrome, type C, 231200"
            ],
            "transcript": null,
            "entity_name": "GP9",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "hIk-1",
                    "LyF-1",
                    "Hs.54452",
                    "IKAROS",
                    "PPP1R92"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13176",
                "gene_name": "IKAROS family zinc finger 1",
                "omim_gene": [
                    "603023"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 92"
                ],
                "gene_symbol": "IKZF1",
                "hgnc_symbol": "IKZF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:50343720-50472799",
                            "ensembl_id": "ENSG00000185811"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:50304124-50405101",
                            "ensembl_id": "ENSG00000185811"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Acute lymphoblastic leukemia (ALL)",
                "Immunodeficiency, common variable, 13,616873"
            ],
            "transcript": null,
            "entity_name": "IKZF1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "North West GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "LAT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18874",
                "gene_name": "linker for activation of T-cells",
                "omim_gene": [
                    "602354"
                ],
                "alias_name": [
                    "linker for activation of T cells, transmembrane adaptor"
                ],
                "gene_symbol": "LAT",
                "hgnc_symbol": "LAT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:28996147-29002104",
                            "ensembl_id": "ENSG00000213658"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:28984826-28990783",
                            "ensembl_id": "ENSG00000213658"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-07-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Immunodeficiency 52, 617514"
            ],
            "transcript": null,
            "entity_name": "LAT",
            "entity_type": "gene",
            "publications": [
                "27522155",
                "27242165"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "London South GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ14813",
                    "THC2",
                    "Gwl"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19042",
                "gene_name": "microtubule associated serine/threonine kinase like",
                "omim_gene": [
                    "608221"
                ],
                "alias_name": [
                    "greatwall kinase homolog"
                ],
                "gene_symbol": "MASTL",
                "hgnc_symbol": "MASTL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:27443753-27475853",
                            "ensembl_id": "ENSG00000120539"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:27154824-27186924",
                            "ensembl_id": "ENSG00000120539"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-02-10"
            },
            "penetrance": null,
            "phenotypes": [
                "severe aplastic anemia",
                "Thrombocytopenia"
            ],
            "transcript": null,
            "entity_name": "MASTL",
            "entity_type": "gene",
            "publications": [
                "10891439",
                "26136524",
                "22102272"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "NMMHCA",
                    "NMHC-II-A",
                    "MHA",
                    "FTNS",
                    "EPSTS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7579",
                "gene_name": "myosin heavy chain 9",
                "omim_gene": [
                    "160775"
                ],
                "alias_name": [
                    "nonmuscle myosin heavy chain II-A"
                ],
                "gene_symbol": "MYH9",
                "hgnc_symbol": "MYH9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:36677327-36784063",
                            "ensembl_id": "ENSG00000100345"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:36281281-36388018",
                            "ensembl_id": "ENSG00000100345"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-03-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Macrothrombocytopenia, 155100"
            ],
            "transcript": null,
            "entity_name": "MYH9",
            "entity_type": "gene",
            "publications": [
                "20174760"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS",
                "Yorkshire and North East GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA1915"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29401",
                "gene_name": "Myb like, SWIRM and MPN domains 1",
                "omim_gene": [
                    "612176"
                ],
                "alias_name": null,
                "gene_symbol": "MYSM1",
                "hgnc_symbol": "MYSM1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:59120411-59165764",
                            "ensembl_id": "ENSG00000162601"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:58654739-58700092",
                            "ensembl_id": "ENSG00000162601"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-14"
            },
            "penetrance": null,
            "phenotypes": [
                "618116 Bone marrow failure syndrome 4"
            ],
            "transcript": null,
            "entity_name": "MYSM1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0540"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:31928",
                "gene_name": "neurobeachin like 2",
                "omim_gene": [
                    "614169"
                ],
                "alias_name": null,
                "gene_symbol": "NBEAL2",
                "hgnc_symbol": "NBEAL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:47021173-47051193",
                            "ensembl_id": "ENSG00000160796"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:46979683-47009703",
                            "ensembl_id": "ENSG00000160796"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Gray platelet syndrome, 139090"
            ],
            "transcript": null,
            "entity_name": "NBEAL2",
            "entity_type": "gene",
            "publications": [
                "20709904"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "ATV",
                    "AT-V2",
                    "AT-V1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7652",
                "gene_name": "nibrin",
                "omim_gene": [
                    "602667"
                ],
                "alias_name": null,
                "gene_symbol": "NBN",
                "hgnc_symbol": "NBN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:90945564-91015456",
                            "ensembl_id": "ENSG00000104320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:89933336-90003228",
                            "ensembl_id": "ENSG00000104320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-06-02"
            },
            "penetrance": null,
            "phenotypes": [
                "Aplastic anemia, 609135",
                "251260 Nijmegen breakage syndrome",
                "Leukemia, acute lymphoblastic, 613065",
                "Nijmegen breakage syndrome, 251260"
            ],
            "transcript": null,
            "entity_name": "NBN",
            "entity_type": "gene",
            "publications": [
                "15338273",
                "11325820"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "FLJ20479"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14377",
                "gene_name": "NHP2 ribonucleoprotein",
                "omim_gene": [
                    "606470"
                ],
                "alias_name": null,
                "gene_symbol": "NHP2",
                "hgnc_symbol": "NHP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:177576461-177580968",
                            "ensembl_id": "ENSG00000145912"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:178149460-178153967",
                            "ensembl_id": "ENSG00000145912"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-10-13"
            },
            "penetrance": null,
            "phenotypes": [
                "613987 Dyskeratosis congenita, autosomal recessive 2",
                "Dyskeratosis congenita, autosomal recessive 2, 613987",
                "Dyskeratosis congenita, autosomal recessive 2,613987"
            ],
            "transcript": null,
            "entity_name": "NHP2",
            "entity_type": "gene",
            "publications": [
                "18523010"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "NOP10P",
                    "MGC70651"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14378",
                "gene_name": "NOP10 ribonucleoprotein",
                "omim_gene": [
                    "606471"
                ],
                "alias_name": [
                    "homolog of yeast Nop10p"
                ],
                "gene_symbol": "NOP10",
                "hgnc_symbol": "NOP10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:34633917-34635378",
                            "ensembl_id": "ENSG00000182117"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:34341713-34343177",
                            "ensembl_id": "ENSG00000182117"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-10-13"
            },
            "penetrance": null,
            "phenotypes": [
                "Dyskeratosis congenita, autosomal recessive 1, 224230",
                "224230 Dyskeratosis congenita, autosomal recessive 1"
            ],
            "transcript": null,
            "entity_name": "NOP10",
            "entity_type": "gene",
            "publications": [
                "17507419"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "EN-7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9802",
                "gene_name": "Rac family small GTPase 2",
                "omim_gene": [
                    "602049"
                ],
                "alias_name": null,
                "gene_symbol": "RAC2",
                "hgnc_symbol": "RAC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:37621301-37640488",
                            "ensembl_id": "ENSG00000128340"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:37225261-37244448",
                            "ensembl_id": "ENSG00000128340"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Neutrophil immunodeficiency syndrome, 608203"
            ],
            "transcript": null,
            "entity_name": "RAC2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "L18"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10310",
                "gene_name": "ribosomal protein L18",
                "omim_gene": [
                    "604179"
                ],
                "alias_name": [
                    "60S ribosomal protein L18"
                ],
                "gene_symbol": "RPL18",
                "hgnc_symbol": "RPL18",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:49118585-49122793",
                            "ensembl_id": "ENSG00000063177"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:48615328-48619536",
                            "ensembl_id": "ENSG00000063177"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-01-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anaemia"
            ],
            "transcript": null,
            "entity_name": "RPL18",
            "entity_type": "gene",
            "publications": [
                "28280134"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "S28"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10418",
                "gene_name": "ribosomal protein S28",
                "omim_gene": [
                    "603685"
                ],
                "alias_name": [
                    "40S ribosomal protein S28"
                ],
                "gene_symbol": "RPS28",
                "hgnc_symbol": "RPS28",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:8386042-8388224",
                            "ensembl_id": "ENSG00000233927"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:8321158-8323340",
                            "ensembl_id": "ENSG00000233927"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-07"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164"
            ],
            "transcript": null,
            "entity_name": "RPS28",
            "entity_type": "gene",
            "publications": [
                "24942156",
                "20301769"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "PEBP2A2",
                    "AMLCR1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10471",
                "gene_name": "runt related transcription factor 1",
                "omim_gene": [
                    "151385"
                ],
                "alias_name": [
                    "aml1 oncogene"
                ],
                "gene_symbol": "RUNX1",
                "hgnc_symbol": "RUNX1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:36160098-37376965",
                            "ensembl_id": "ENSG00000159216"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:34787801-36004667",
                            "ensembl_id": "ENSG00000159216"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Platelet disorder, familial, with associated myeloid malignancy, 601399"
            ],
            "transcript": null,
            "entity_name": "RUNX1",
            "entity_type": "gene",
            "publications": [
                "19357396",
                "9746808"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32689",
                "gene_name": "schlafen family member 14",
                "omim_gene": [
                    "614958"
                ],
                "alias_name": null,
                "gene_symbol": "SLFN14",
                "hgnc_symbol": "SLFN14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:33875144-33885117",
                            "ensembl_id": "ENSG00000236320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:35548125-35558098",
                            "ensembl_id": "ENSG00000236320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-04-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Bleeding disorder, platelet-type, 20, 616913"
            ],
            "transcript": null,
            "entity_name": "SLFN14",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11303",
                "gene_name": "signal recognition particle 72",
                "omim_gene": [
                    "602122"
                ],
                "alias_name": null,
                "gene_symbol": "SRP72",
                "hgnc_symbol": "SRP72",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:57333081-57369839",
                            "ensembl_id": "ENSG00000174780"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:56466915-56503680",
                            "ensembl_id": "ENSG00000174780"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-12-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia",
                "Bone marrow failure, familial, 614675",
                "Familial MDS (Myelodysplastic syndromes)",
                "Bone Marrow Failure, Familial",
                "614675 Bone marrow failure syndrome 1",
                "Familial Bone Marrow Failure"
            ],
            "transcript": null,
            "entity_name": "SRP72",
            "entity_type": "gene",
            "publications": [
                "22541560",
                "29146883"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "GOK",
                    "D11S4896E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11386",
                "gene_name": "stromal interaction molecule 1",
                "omim_gene": [
                    "605921"
                ],
                "alias_name": null,
                "gene_symbol": "STIM1",
                "hgnc_symbol": "STIM1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:3875757-4114439",
                            "ensembl_id": "ENSG00000167323"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:3854527-4093210",
                            "ensembl_id": "ENSG00000167323"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Stormorken syndrome, 185070"
            ],
            "transcript": null,
            "entity_name": "STIM1",
            "entity_type": "gene",
            "publications": [
                "25577287"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "D22S676",
                    "D22S750",
                    "TC2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11653",
                "gene_name": "transcobalamin 2",
                "omim_gene": [
                    "613441"
                ],
                "alias_name": [
                    "macrocytic anemia"
                ],
                "gene_symbol": "TCN2",
                "hgnc_symbol": "TCN2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:31002825-31023265",
                            "ensembl_id": "ENSG00000185339"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:30606838-30627278",
                            "ensembl_id": "ENSG00000185339"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "penetrance": null,
            "phenotypes": [
                "Transcobalamin II deficiency, 275350"
            ],
            "transcript": null,
            "entity_name": "TCN2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "DT1P1A10",
                    "RP1-112K5.2",
                    "WGG1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25455",
                "gene_name": "TSR2, ribosome maturation factor",
                "omim_gene": [
                    "300945"
                ],
                "alias_name": [
                    "WGG motif containing 1"
                ],
                "gene_symbol": "TSR2",
                "hgnc_symbol": "TSR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:54466834-54471920",
                            "ensembl_id": "ENSG00000158526"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:54440401-54445487",
                            "ensembl_id": "ENSG00000158526"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-07-03"
            },
            "penetrance": null,
            "phenotypes": [
                "?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946"
            ],
            "transcript": null,
            "entity_name": "TSR2",
            "entity_type": "gene",
            "publications": [
                "24942156",
                "20301769"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "Expert review Amber",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "dJ543J19.4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16257",
                "gene_name": "tubulin beta 1 class VI",
                "omim_gene": [
                    "612901"
                ],
                "alias_name": [
                    "class VI beta-tubulin"
                ],
                "gene_symbol": "TUBB1",
                "hgnc_symbol": "TUBB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57594309-57601709",
                            "ensembl_id": "ENSG00000101162"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:59019254-59026654",
                            "ensembl_id": "ENSG00000101162"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-07-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Macrothrombocytopenia, 613112"
            ],
            "transcript": null,
            "entity_name": "TUBB1",
            "entity_type": "gene",
            "publications": [
                "18849486"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:132",
                "gene_name": "actin beta",
                "omim_gene": [
                    "102630"
                ],
                "alias_name": null,
                "gene_symbol": "ACTB",
                "hgnc_symbol": "ACTB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:5566782-5603415",
                            "ensembl_id": "ENSG00000075624"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:5527151-5563784",
                            "ensembl_id": "ENSG00000075624"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Baraitser-Winter syndrome 1 with macrothrombocytopenia",
                "Baraitser-Winter syndrome 1, 243310"
            ],
            "transcript": null,
            "entity_name": "ACTB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "ARC41",
                    "p40-ARC",
                    "p41-ARC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:704",
                "gene_name": "actin related protein 2/3 complex subunit 1B",
                "omim_gene": [
                    "604223"
                ],
                "alias_name": [
                    "ARP2/3 protein complex subunit p41",
                    "actin related protein 2/3 complex, subunit 1A (41 kD)"
                ],
                "gene_symbol": "ARPC1B",
                "hgnc_symbol": "ARPC1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:98971872-98992424",
                            "ensembl_id": "ENSG00000130429"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:99374249-99394801",
                            "ensembl_id": "ENSG00000130429"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-08-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718"
            ],
            "transcript": null,
            "entity_name": "ARPC1B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "p50",
                    "Bp50"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11919",
                "gene_name": "CD40 molecule",
                "omim_gene": [
                    "109535"
                ],
                "alias_name": null,
                "gene_symbol": "CD40",
                "hgnc_symbol": "CD40",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:44746911-44758502",
                            "ensembl_id": "ENSG00000101017"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:46118272-46129863",
                            "ensembl_id": "ENSG00000101017"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Immunodeficiency with hyper-IgM, type 3, 606843"
            ],
            "transcript": null,
            "entity_name": "CD40",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD40L",
                    "TRAP",
                    "gp39",
                    "hCD40L",
                    "CD154"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11935",
                "gene_name": "CD40 ligand",
                "omim_gene": [
                    "300386"
                ],
                "alias_name": [
                    "CD40 antigen ligand",
                    "tumor necrosis factor (ligand) superfamily member 5",
                    "T-B cell-activating molecule",
                    "TNF-related activation protein",
                    "hyper-IgM syndrome"
                ],
                "gene_symbol": "CD40LG",
                "hgnc_symbol": "CD40LG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:135730352-135742549",
                            "ensembl_id": "ENSG00000102245"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:136648193-136660390",
                            "ensembl_id": "ENSG00000102245"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-14"
            },
            "penetrance": null,
            "phenotypes": [
                "Immunodeficiency, X-linked, with hyper-IgM, 308230"
            ],
            "transcript": null,
            "entity_name": "CD40LG",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "G25K",
                    "CDC42Hs"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1736",
                "gene_name": "cell division cycle 42",
                "omim_gene": [
                    "116952"
                ],
                "alias_name": [
                    "GTP binding protein, 25kDa"
                ],
                "gene_symbol": "CDC42",
                "hgnc_symbol": "CDC42",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:22379120-22419437",
                            "ensembl_id": "ENSG00000070831"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:22052627-22092946",
                            "ensembl_id": "ENSG00000070831"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-06"
            },
            "penetrance": null,
            "phenotypes": [
                "Takenouchi-Kosaki syndrome, 616737"
            ],
            "transcript": null,
            "entity_name": "CDC42",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "HSP78",
                    "SKD3",
                    "FLJ13152",
                    "ANKCLB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30664",
                "gene_name": "ClpB homolog, mitochondrial AAA ATPase chaperonin",
                "omim_gene": [
                    "616254"
                ],
                "alias_name": [
                    "suppressor of potassium transport defect 3",
                    "ankyrin-repeat containing bacterial clp fusion"
                ],
                "gene_symbol": "CLPB",
                "hgnc_symbol": "CLPB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:72003469-72145692",
                            "ensembl_id": "ENSG00000162129"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:72292425-72434680",
                            "ensembl_id": "ENSG00000162129"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-10-04"
            },
            "penetrance": null,
            "phenotypes": [
                "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271"
            ],
            "transcript": null,
            "entity_name": "CLPB",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "ABS",
                    "MGC8828"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18674",
                "gene_name": "DEAD-box helicase 41",
                "omim_gene": [
                    "608170"
                ],
                "alias_name": null,
                "gene_symbol": "DDX41",
                "hgnc_symbol": "DDX41",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:176938578-176944470",
                            "ensembl_id": "ENSG00000183258"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:177511577-177517469",
                            "ensembl_id": "ENSG00000183258"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-13"
            },
            "penetrance": null,
            "phenotypes": [
                "616871 Susceptibility to myeloid neoplasms"
            ],
            "transcript": null,
            "entity_name": "DDX41",
            "entity_type": "gene",
            "publications": [
                "25920683",
                "26712909"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "hDIA1",
                    "LFHL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2876",
                "gene_name": "diaphanous related formin 1",
                "omim_gene": [
                    "602121"
                ],
                "alias_name": null,
                "gene_symbol": "DIAPH1",
                "hgnc_symbol": "DIAPH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:140894583-140998622",
                            "ensembl_id": "ENSG00000131504"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:141515016-141619055",
                            "ensembl_id": "ENSG00000131504"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-17"
            },
            "penetrance": null,
            "phenotypes": [
                "Macrothrombocytopenia and hearing loss",
                "Deafness, autosomal dominant 1, 124900"
            ],
            "transcript": null,
            "entity_name": "DIAPH1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "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": "2017-11-03",
                "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": null,
            "phenotypes": [],
            "transcript": null,
            "entity_name": "FLNA",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "KIAA0186",
                    "PSF1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28980",
                "gene_name": "GINS complex subunit 1",
                "omim_gene": [
                    "610608"
                ],
                "alias_name": null,
                "gene_symbol": "GINS1",
                "hgnc_symbol": "GINS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:25388363-25433264",
                            "ensembl_id": "ENSG00000101003"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:25407727-25452628",
                            "ensembl_id": "ENSG00000101003"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-05-04"
            },
            "penetrance": null,
            "phenotypes": [
                "Immunodeficiency 55, 617827"
            ],
            "transcript": null,
            "entity_name": "GINS1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "Uae1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23657",
                "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
                "omim_gene": [
                    "603824"
                ],
                "alias_name": [
                    "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase"
                ],
                "gene_symbol": "GNE",
                "hgnc_symbol": "GNE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:36214438-36277053",
                            "ensembl_id": "ENSG00000159921"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:36214441-36277056",
                            "ensembl_id": "ENSG00000159921"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-11-28"
            },
            "penetrance": null,
            "phenotypes": [
                "Nonaka myopathy, 605820"
            ],
            "transcript": null,
            "entity_name": "GNE",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "North West GLH",
                "Wessex and West Midlands GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5101",
                "gene_name": "homeobox A11",
                "omim_gene": [
                    "142958"
                ],
                "alias_name": null,
                "gene_symbol": "HOXA11",
                "hgnc_symbol": "HOXA11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:27221129-27224842",
                            "ensembl_id": "ENSG00000005073"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:27181510-27185223",
                            "ensembl_id": "ENSG00000005073"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-07-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432"
            ],
            "transcript": null,
            "entity_name": "HOXA11",
            "entity_type": "gene",
            "publications": [
                "20091385",
                "11101832"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "OMI",
                    "PARK13"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14348",
                "gene_name": "HtrA serine peptidase 2",
                "omim_gene": [
                    "606441"
                ],
                "alias_name": null,
                "gene_symbol": "HTRA2",
                "hgnc_symbol": "HTRA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:74756504-74760472",
                            "ensembl_id": "ENSG00000115317"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:74529377-74533348",
                            "ensembl_id": "ENSG00000115317"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-19"
            },
            "penetrance": null,
            "phenotypes": [
                "3-methylglutaconic aciduria, type VIII, 617248"
            ],
            "transcript": null,
            "entity_name": "HTRA2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD41B",
                    "CD41",
                    "PPP1R93"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6138",
                "gene_name": "integrin subunit alpha 2b",
                "omim_gene": [
                    "607759"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 93",
                    "platelet glycoprotein IIb of IIb/IIIa complex"
                ],
                "gene_symbol": "ITGA2B",
                "hgnc_symbol": "ITGA2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42449548-42466873",
                            "ensembl_id": "ENSG00000005961"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44372180-44389505",
                            "ensembl_id": "ENSG00000005961"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "Glanzmann thrombasthenia, 273800"
            ],
            "transcript": null,
            "entity_name": "ITGA2B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CD61",
                    "GPIIIa"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6156",
                "gene_name": "integrin subunit beta 3",
                "omim_gene": [
                    "173470"
                ],
                "alias_name": [
                    "platelet glycoprotein IIIa",
                    "antigen CD61"
                ],
                "gene_symbol": "ITGB3",
                "hgnc_symbol": "ITGB3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:45331212-45421658",
                            "ensembl_id": "ENSG00000259207"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:47253846-47311816",
                            "ensembl_id": "ENSG00000259207"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-06-09"
            },
            "penetrance": null,
            "phenotypes": [
                "Glanzmann thrombasthenia, 273800"
            ],
            "transcript": null,
            "entity_name": "ITGB3",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "DHSR",
                    "SDR35C1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4021",
                "gene_name": "3-ketodihydrosphingosine reductase",
                "omim_gene": [
                    "136440"
                ],
                "alias_name": [
                    "3-dehydrosphinganine reductase",
                    "short chain dehydrogenase/reductase family 35C, member 1"
                ],
                "gene_symbol": "KDSR",
                "hgnc_symbol": "KDSR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:60994959-61034743",
                            "ensembl_id": "ENSG00000119537"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:63327726-63367510",
                            "ensembl_id": "ENSG00000119537"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-02-20"
            },
            "penetrance": null,
            "phenotypes": [
                "Erythrokeratodermia variabilis et progressiva 4, 617526"
            ],
            "transcript": null,
            "entity_name": "KDSR",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "MAPBPIP",
                    "MAPKSP1AP",
                    "p14",
                    "ENDAP",
                    "Ragulator2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29796",
                "gene_name": "late endosomal/lysosomal adaptor, MAPK and MTOR activator 2",
                "omim_gene": [
                    "610389"
                ],
                "alias_name": [
                    "mitogen activated protein binding protein interacting protein",
                    "MAPKSP1 adaptor protein",
                    "endosomal adaptor protein"
                ],
                "gene_symbol": "LAMTOR2",
                "hgnc_symbol": "LAMTOR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:156024543-156028301",
                            "ensembl_id": "ENSG00000116586"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:156054752-156058510",
                            "ensembl_id": "ENSG00000116586"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-02-15"
            },
            "penetrance": null,
            "phenotypes": [
                "Immunodeficiency due to defect in MAPBP-interacting protein, 610798"
            ],
            "transcript": null,
            "entity_name": "LAMTOR2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "London South GLH"
            ],
            "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": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:108859787-108870716",
                            "ensembl_id": "ENSG00000174405"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:108207439-108218368",
                            "ensembl_id": "ENSG00000174405"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-08-10"
            },
            "penetrance": null,
            "phenotypes": [
                "606593 LIG4 syndrome"
            ],
            "transcript": null,
            "entity_name": "LIG4",
            "entity_type": "gene",
            "publications": [
                "20133615",
                "16088910",
                "11779494"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "CHS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1968",
                "gene_name": "lysosomal trafficking regulator",
                "omim_gene": [
                    "606897"
                ],
                "alias_name": null,
                "gene_symbol": "LYST",
                "hgnc_symbol": "LYST",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:235824341-236046940",
                            "ensembl_id": "ENSG00000143669"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:235661041-235883640",
                            "ensembl_id": "ENSG00000143669"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-12-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Chediak-Higashi syndrome, 214500"
            ],
            "transcript": null,
            "entity_name": "LYST",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "Yorkshire and North East GLH",
                "North West GLH",
                "London South GLH",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "G6b",
                    "NG31",
                    "G6b-B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13937",
                "gene_name": "megakaryocyte and platelet inhibitory receptor G6b",
                "omim_gene": [
                    "606520"
                ],
                "alias_name": null,
                "gene_symbol": "MPIG6B",
                "hgnc_symbol": "MPIG6B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:31686371-31694491",
                            "ensembl_id": "ENSG00000204420"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:31718594-31726714",
                            "ensembl_id": "ENSG00000204420"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-01-04"
            },
            "penetrance": null,
            "phenotypes": [
                "617441 Thrombocytopenia, anemia, and myelofibrosis",
                "?Thrombocytopenia, anemia, and myelofibrosis1, 617441",
                "?Thrombocytopenia, anemia, and myelofibrosis, 617441"
            ],
            "transcript": null,
            "entity_name": "MPIG6B",
            "entity_type": "gene",
            "publications": [
                "27743390"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7373",
                "gene_name": "moesin",
                "omim_gene": [
                    "309845"
                ],
                "alias_name": null,
                "gene_symbol": "MSN",
                "hgnc_symbol": "MSN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:64808257-64961791",
                            "ensembl_id": "ENSG00000147065"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:65588377-65741931",
                            "ensembl_id": "ENSG00000147065"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-02-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Immunodeficiency 50, 300988"
            ],
            "transcript": null,
            "entity_name": "MSN",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7432",
                "gene_name": "methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",
                "omim_gene": [
                    "172460"
                ],
                "alias_name": null,
                "gene_symbol": "MTHFD1",
                "hgnc_symbol": "MTHFD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:64854749-64926722",
                            "ensembl_id": "ENSG00000100714"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:64388031-64463457",
                            "ensembl_id": "ENSG00000100714"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-07-23"
            },
            "penetrance": null,
            "phenotypes": [
                "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780"
            ],
            "transcript": null,
            "entity_name": "MTHFD1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RING10",
                    "D6S216E",
                    "PSMB5i",
                    "beta5i"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9545",
                "gene_name": "proteasome subunit beta 8",
                "omim_gene": [
                    "177046"
                ],
                "alias_name": null,
                "gene_symbol": "PSMB8",
                "hgnc_symbol": "PSMB8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:32808494-32812480",
                            "ensembl_id": "ENSG00000204264"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:32840717-32844703",
                            "ensembl_id": "ENSG00000204264"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-06-25"
            },
            "penetrance": null,
            "phenotypes": [
                "Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040"
            ],
            "transcript": null,
            "entity_name": "PSMB8",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "BPTP3",
                    "SH-PTP2",
                    "SHP-2",
                    "PTP2C",
                    "SHP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9644",
                "gene_name": "protein tyrosine phosphatase, non-receptor type 11",
                "omim_gene": [
                    "176876"
                ],
                "alias_name": null,
                "gene_symbol": "PTPN11",
                "hgnc_symbol": "PTPN11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:112856155-112947717",
                            "ensembl_id": "ENSG00000179295"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:112418351-112509913",
                            "ensembl_id": "ENSG00000179295"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "penetrance": null,
            "phenotypes": [
                "Noonan syndrome 1, 163950"
            ],
            "transcript": null,
            "entity_name": "PTPN11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "Wessex and West Midlands GLH",
                "North West GLH",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "ZNRP",
                    "BOV-1A",
                    "BOV-1B",
                    "BOV-1C",
                    "RBM8B",
                    "Y14"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:9905",
                "gene_name": "RNA binding motif protein 8A",
                "omim_gene": [
                    "605313"
                ],
                "alias_name": null,
                "gene_symbol": "RBM8A",
                "hgnc_symbol": "RBM8A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:145507598-145513536",
                            "ensembl_id": "ENSG00000131795"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:145917714-145927678",
                            "ensembl_id": "ENSG00000265241"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
            "penetrance": null,
            "phenotypes": [
                "616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related",
                "615190 DC type 4 and 5",
                "274000 Thrombocytopenia-absent radius syndrome"
            ],
            "transcript": null,
            "entity_name": "RBM8A",
            "entity_type": "gene",
            "publications": [
                "22366785",
                "24220582",
                "28128450",
                "17236129"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "RNU4ATAC1"
                ],
                "biotype": "snRNA",
                "hgnc_id": "HGNC:34016",
                "gene_name": "RNA, U4atac small nuclear (U12-dependent splicing)",
                "omim_gene": [
                    "601428"
                ],
                "alias_name": null,
                "gene_symbol": "RNU4ATAC",
                "hgnc_symbol": "RNU4ATAC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:122288457-122288583",
                            "ensembl_id": "ENSG00000264229"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:121530881-121531007",
                            "ensembl_id": "ENSG00000264229"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-03-12"
            },
            "penetrance": null,
            "phenotypes": [
                "Roifman syndrome, 616651",
                "Microcephalic osteodysplastic primordial dwarfism, type I, 210710"
            ],
            "transcript": null,
            "entity_name": "RNU4ATAC",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "MPS-1",
                    "MPS1",
                    "S27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10416",
                "gene_name": "ribosomal protein S27",
                "omim_gene": [
                    "603702"
                ],
                "alias_name": [
                    "metallopanstimulin 1"
                ],
                "gene_symbol": "RPS27",
                "hgnc_symbol": "RPS27",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:153963235-153964626",
                            "ensembl_id": "ENSG00000177954"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:153990759-153992150",
                            "ensembl_id": "ENSG00000177954"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-06-05"
            },
            "penetrance": null,
            "phenotypes": [
                "Diamond-Blackfan anemia",
                "?Diamond-Blackfan anemia 17, 617409"
            ],
            "transcript": null,
            "entity_name": "RPS27",
            "entity_type": "gene",
            "publications": [
                "23718193",
                "25424902"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Red",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "Expert Review Red",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "GSD1b",
                    "GSD1c",
                    "GSD1d"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4061",
                "gene_name": "solute carrier family 37 member 4",
                "omim_gene": [
                    "602671"
                ],
                "alias_name": null,
                "gene_symbol": "SLC37A4",
                "hgnc_symbol": "SLC37A4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:118894824-118901616",
                            "ensembl_id": "ENSG00000137700"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119024114-119030906",
                            "ensembl_id": "ENSG00000137700"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-09-10"
            },
            "penetrance": null,
            "phenotypes": [
                "Glycogen storage disease Ib, 232220"
            ],
            "transcript": null,
            "entity_name": "SLC37A4",
            "entity_type": "gene",
            "publications": [
                "9428641",
                "9675154"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert review Red",
                "North West GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH",
                "Expert Review Red",
                "NHS GMS",
                "London South GLH"
            ],
            "gene_data": {
                "alias": [
                    "HHARP",
                    "HARP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11102",
                "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1",
                "omim_gene": [
                    "606622"
                ],
                "alias_name": [
                    "HepA-related protein",
                    "ATP-driven annealing helicase"
                ],
                "gene_symbol": "SMARCAL1",
                "hgnc_symbol": "SMARCAL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:217277137-217347776",
                            "ensembl_id": "ENSG00000138375"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:216412414-216483053",
                            "ensembl_id": "ENSG00000138375"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-02-18"
            },
            "penetrance": null,
            "phenotypes": [
                "Schimke immunoosseous dysplasia, 242900"
            ],
            "transcript": null,
            "entity_name": "SMARCAL1",
            "entity_type": "gene",
            "publications": [
                "17089404"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [
                    "MST1",
                    "KRS2",
                    "YSK3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11408",
                "gene_name": "serine/threonine kinase 4",
                "omim_gene": [
                    "604965"
                ],
                "alias_name": [
                    "mammalian sterile 20-like 1",
                    "yeast Ste20-like",
                    "kinase responsive to stress 2"
                ],
                "gene_symbol": "STK4",
                "hgnc_symbol": "STK4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:43595115-43708600",
                            "ensembl_id": "ENSG00000101109"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:44966474-45079959",
                            "ensembl_id": "ENSG00000101109"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-09"
            },
            "penetrance": null,
            "phenotypes": [
                "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868"
            ],
            "transcript": null,
            "entity_name": "STK4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "NHS GMS",
                "Yorkshire and North East GLH"
            ],
            "gene_data": {
                "alias": [
                    "p53",
                    "LFS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11998",
                "gene_name": "tumor protein p53",
                "omim_gene": [
                    "191170"
                ],
                "alias_name": [
                    "Li-Fraumeni syndrome"
                ],
                "gene_symbol": "TP53",
                "hgnc_symbol": "TP53",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:7565097-7590856",
                            "ensembl_id": "ENSG00000141510"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:7661779-7687550",
                            "ensembl_id": "ENSG00000141510"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "618165 Bone marrow failure syndrome 5"
            ],
            "transcript": null,
            "entity_name": "TP53",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2183",
                "gene_name": "vacuolar protein sorting 13 homolog B",
                "omim_gene": [
                    "607817"
                ],
                "alias_name": null,
                "gene_symbol": "VPS13B",
                "hgnc_symbol": "VPS13B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:100025494-100889808",
                            "ensembl_id": "ENSG00000132549"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:99013266-99877580",
                            "ensembl_id": "ENSG00000132549"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-04-08"
            },
            "penetrance": null,
            "phenotypes": [
                "Cohen syndrome, 216550"
            ],
            "transcript": null,
            "entity_name": "VPS13B",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Expert review Red",
                "NHS GMS",
                "North West GLH",
                "London South GLH",
                "Yorkshire and North East GLH",
                "Wessex and West Midlands GLH"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:12726",
                "gene_name": "von Willebrand factor",
                "omim_gene": [
                    "613160"
                ],
                "alias_name": null,
                "gene_symbol": "VWF",
                "hgnc_symbol": "VWF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:6058040-6233936",
                            "ensembl_id": "ENSG00000110799"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:5948874-6124770",
                            "ensembl_id": "ENSG00000110799"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "penetrance": null,
            "phenotypes": [
                "von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554",
                "von Willibrand disease, type 3, 277480",
                "von Willebrand disease, type 1, 193400"
            ],
            "transcript": null,
            "entity_name": "VWF",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 119,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "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": null,
    "regions": [],
    "version": "1.0",
    "disease_group": "",
    "version_created": "2019-11-12T16:51:04.167457Z",
    "disease_sub_group": "",
    "relevant_disorders": [
        "R91",
        "R258"
    ],
    "signed_off": "2019-11-12"
}